Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin

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Bibliographic Details
Published inAmerican journal of medical genetics. Part A Vol. 158A; no. 2; pp. 469 - 472
Main Authors Gardeitchik, T., de Leeuw, N., Nijtmans, L., Jira, P., Kozicz, T., Czako, M., van de Burgt, I., Morava, E.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.02.2012
Wiley-Liss
Wiley Subscription Services, Inc
Subjects
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - pathology
Beckwith-Wiedemann Syndrome - genetics
Beckwith-Wiedemann Syndrome - pathology
Biological and medical sciences
Child, Preschool
Chromosome Duplication
Chromosomes, Human, Pair 11
Cleft Lip - diagnosis
Cleft Palate - diagnosis
Costello Syndrome - genetics
Costello Syndrome - pathology
Cutis Laxa - diagnosis
Cutis Laxa - genetics
Cutis Laxa - pathology
Elastin - deficiency
Elastin - ultrastructure
Female
Humans
Hydrocephalus - diagnosis
Karyotype
Medical genetics
Medical sciences
Proto-Oncogene Proteins p21(ras) - genetics
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
Chromosomal aberration
Human
Skin disease
Elastic tissue disease
Infant
Chromosome C11
De novo
Paternal origin
Systemic disease
Abnormal chromosome
Cutis laxa
Chromosome duplication
Severe
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Bibliography:ArticleID:AJMG34410
ark:/67375/WNG-22NVPPD0-F
All authors declare that there are no conflicts of interest.
How to Cite this Article: Gardeitchik T, de Leeuw N, Nijtmans L, Jira P, Kozicz T, Czako M, van de Burgt I, Morava E. 2012. Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin. Am J Med Genet Part A 158A:469-472.
istex:FF77C0E789226265AB859B4C9BF1AC5E32BE60EB
How to Cite this Article: Gardeitchik T, de Leeuw N, Nijtmans L, Jira P, Kozicz T, Czako M, van de Burgt I, Morava E. 2012. Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin. Am J Med Genet Part A 158A:469–472.
SourceType-Other Sources-1
content type line 63
ObjectType-Correspondence-1
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.34410