Novel CNS syndrome and ectodermal dysplasia

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Published inAmerican journal of medical genetics. Part A Vol. 116A; no. 2; pp. 200 - 204
Main Authors Zannolli, R., Macucci, F., Di Bartolo, R.M., Serracca, L., Miracco, C., de Santi, M.M., Giannini, F., Malandrini, A., Galluzzi, P., De Robertis, S., Hadjistilianou, T., Perotti, R., Fimiani, M., Doldo, T., Giorgetti, R., Cavani, S., Pierluigi, M.
Format Journal Article
LanguageEnglish
Published New York Wiley Subscription Services, Inc., A Wiley Company 15.01.2003
Subjects
Brain - pathology
Central Nervous System Diseases - complications
Central Nervous System Diseases - pathology
Child, Preschool
Ectodermal Dysplasia - complications
Ectodermal Dysplasia - pathology
Hair - abnormalities
Hair - ultrastructure
Humans
Magnetic Resonance Imaging
Male
Microscopy, Electron
Syndrome
Online AccessGet full text

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Author Pierluigi, M.
Giorgetti, R.
Fimiani, M.
Hadjistilianou, T.
Perotti, R.
Zannolli, R.
Cavani, S.
Macucci, F.
Di Bartolo, R.M.
Giannini, F.
de Santi, M.M.
Galluzzi, P.
Malandrini, A.
Doldo, T.
Miracco, C.
Serracca, L.
De Robertis, S.
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  organization: Human Genetics Laboratory, Galliera Hospital, Genoa, Italy
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Cites_doi 10.1002/ajmg.10713
10.1073/pnas.98.4.1665
10.1038/74224
10.1001/archpedi.152.12.1241
10.1002/ajmg.b.10811
10.1034/j.1399-0004.2000.580601.x
10.1016/B978-0-12-505263-4.50012-1
10.1074/jbc.274.28.19874
10.1002/ajmg.1320530207
10.1046/j.1523-1747.1999.00680.x
10.1038/74231
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References Neidert AH, Virupannavar V, Hooker GW, Langeland JA. 2001. Lamprey Dlx genes and early vertebrate evolution. Proc Natl Acad Sci USA 98: 1665-1670.
Langbein L, Rogers MA, Winter H, Praetzel S, Beckhaus U, Rackwitz HR, Schweizer J. 1999. The catalog of human hair keratins. I. Expression of the nine type I members in the hair follicle. J Biol Chem 274: 19874-19884.
Lynch M, Walsh B. 1998. Genetics and analysis of quantitative trait. Sunderland, Massachusetts: Sinauer Associates, Inc.
Kenner JR, Sperling LC. 1998. Temporal triangular alopecia. Arch Pediatr Adolesc Med 152: 1241-1242.
Priolo M, Silengo M, Lerone M, Ravazzolo R. 2000. Ectodermal dysplasias: Not only 'skin' deep. Clin Genet 58: 415-430.
Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, Hurst JA, Wall SA, Chrzanowska KH, Maxson RE, Jr. 2000. Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet 24: 387-390.
Zannolli R, Miracco C, de Santi MM, Malandrini A, Inchingolo G, Serracca L, Biagioli M, Perotti R, Baldi C, Nuti D, Polito E, Gonnelli S. 2002b. Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia. Am J Med Genet (in press).
Montagna W, Parakkal PF. 1974. Montagna W, Parakkal PF, editors. The structure and function of skin. New York: Academic Press; pp 172-258.
Satokata I, Ma L, Ohshima H, Bei M, Woo I, Nishlzawa K, Maeda T, Takano Y, Uchiyama M, Heaney S, Peters H, Tang Z, Maxson R, Maas R. 2000. Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation. Nat Genet 24: 391-395.
Pinheiro M, Freire-Maia N. 1994. Ectodermal dysplasias: A clinical classification and a causal review. Am J Med Genet 53: 153-162.
Jiang TX, Liu YH, Widelitz RB, Kundu RK, Maxson RE, Chuong CM. 1999. Epidermal dysplasia and abnormal hair follicles in transgenic mice overexpressing homeobox gene MSX-2. J Invest Dermatol 113: 230-237.
Zannolli R, Galluzzi P, Mazzei MA, Miracco C, de Santi MM, Vatti G, Conversano E, Serracca L, Di Bartolo RM, Molinelli M, Coviello G, Malandrini A, Terrosi-Vagnoli P, Gonnelli S, Alessandrini C, Fimiani M. 2002a. Cortical periventricular heterotopia with ectodermal dysplasia. Am J Med Genet (in press).
Zannolli R, Pierluigi M, Pucci L, Lagrasta N, Gasparre O, Matera MR, Di Bartolo RM, Mazzei MA, Sacco P, Miracco C, de Santi MM, Aitiani P, Cavani S, Pellegrini L, Fimiani M, Alessandrini C, Galluzzi P, Livi W, Gonnelli S, Terrosi-Vagnoli P, Zappella M, Morgese G. 2002c. 18q-syndrome and ED/malformation syndrome-Description of a child and his family. Am J Med Genet (in press).
1999; 274
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References_xml – volume: 113
  start-page: 230
  year: 1999
  end-page: 237
  article-title: Epidermal dysplasia and abnormal hair follicles in transgenic mice overexpressing homeobox gene
  publication-title: J Invest Dermatol
– year: 2002c
  article-title: 18q‐syndrome and ED/malformation syndrome—Description of a child and his family
  publication-title: Am J Med Genet
– volume: 58
  start-page: 415
  year: 2000
  end-page: 430
  article-title: Ectodermal dysplasias: Not only ‘skin’ deep
  publication-title: Clin Genet
– volume: 53
  start-page: 153
  year: 1994
  end-page: 162
  article-title: Ectodermal dysplasias: A clinical classification and a causal review
  publication-title: Am J Med Genet
– volume: 274
  start-page: 19874
  year: 1999
  end-page: 19884
  article-title: The catalog of human hair keratins. I. Expression of the nine type I members in the hair follicle
  publication-title: J Biol Chem
– start-page: 172
  year: 1974
  end-page: 258
– volume: 98
  start-page: 1665
  year: 2001
  end-page: 1670
  article-title: Lamprey genes and early vertebrate evolution
  publication-title: Proc Natl Acad Sci USA
– volume: 24
  start-page: 387
  year: 2000
  end-page: 390
  article-title: Functional haploinsufficiency of the human homeobox gene causes defects in skull ossification
  publication-title: Nat Genet
– volume: 24
  start-page: 391
  year: 2000
  end-page: 395
  article-title: Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
  publication-title: Nat Genet
– year: 2002a
  article-title: Cortical periventricular heterotopia with ectodermal dysplasia
  publication-title: Am J Med Genet
– year: 2002b
  article-title: Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia
  publication-title: Am J Med Genet
– volume: 152
  start-page: 1241
  year: 1998
  end-page: 1242
  article-title: Temporal triangular alopecia
  publication-title: Arch Pediatr Adolesc Med
– year: 1998
– ident: e_1_2_2_14_1
  doi: 10.1002/ajmg.10713
– ident: e_1_2_2_7_1
– ident: e_1_2_2_8_1
  doi: 10.1073/pnas.98.4.1665
– ident: e_1_2_2_12_1
  doi: 10.1038/74224
– year: 2002
  ident: e_1_2_2_15_1
  article-title: 18q‐syndrome and ED/malformation syndrome—Description of a child and his family
  publication-title: Am J Med Genet
  contributor:
    fullname: Zannolli R
– ident: e_1_2_2_3_1
  doi: 10.1001/archpedi.152.12.1241
– ident: e_1_2_2_13_1
  doi: 10.1002/ajmg.b.10811
– ident: e_1_2_2_10_1
  doi: 10.1034/j.1399-0004.2000.580601.x
– ident: e_1_2_2_6_1
  doi: 10.1016/B978-0-12-505263-4.50012-1
– ident: e_1_2_2_4_1
  doi: 10.1074/jbc.274.28.19874
– ident: e_1_2_2_9_1
  doi: 10.1002/ajmg.1320530207
– ident: e_1_2_2_2_1
  doi: 10.1046/j.1523-1747.1999.00680.x
– volume-title: Genetics and analysis of quantitative trait
  year: 1998
  ident: e_1_2_2_5_1
  contributor:
    fullname: Lynch M
– ident: e_1_2_2_11_1
  doi: 10.1038/74231
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StartPage 200
SubjectTerms Brain - pathology
Central Nervous System Diseases - complications
Central Nervous System Diseases - pathology
Child, Preschool
Ectodermal Dysplasia - complications
Ectodermal Dysplasia - pathology
Hair - abnormalities
Hair - ultrastructure
Humans
Magnetic Resonance Imaging
Male
Microscopy, Electron
Syndrome
Title Novel CNS syndrome and ectodermal dysplasia
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