Two different mutations within the same sibship: thanatophoric dwarfism and ullrich-feichtiger syndrome

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Bibliographic Details
Published inHelvetica paediatrica acta Vol. 24; no. 3; p. 239
Main Authors Huguenin, M, Godard, C, Ferrier, P E, Bamatter, F
Format Journal Article
LanguageEnglish
Published Switzerland 01.06.1969
Subjects
Achondroplasia - diagnosis
Brain - abnormalities
Diagnosis, Differential
Disorders of Sex Development - complications
Dwarfism - diagnosis
Dwarfism - genetics
Ear Deformities, Acquired - complications
Epiphyses - pathology
Extremities - diagnostic imaging
Eyelids - abnormalities
Female
Humans
Infant, Newborn
Limb Deformities, Congenital
Limbic System - abnormalities
Male
Microcephaly - complications
Micrognathism - complications
Microphthalmos - complications
Pedigree
Radiography
Ribs - diagnostic imaging
Spine - diagnostic imaging
Temporal Lobe - abnormalities
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ISSN:0018-022X