X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

American Journal of Medical Genetics

Volumn 136 A, Issue 4, 2005, Pages 307-312

  Chassaing, Nicolas ^a,b   Siani, Virginie ^c   Carles, Dominique ^a   Delezoide, Anne Lise ^d   Alberti, Eve Marie ^a   Battin, Jacques ^a   Chateil, Jean François ^a   Gilbert Dussardier, Brigitte ^e   Coupry, Isabelle ^f   Arveiler, Benoit ^a,f   Saura, Robert ^a   Lacombe, Didier ^a,f  

^a HÔPITAL PELLEGRIN   (France)

^b CHU PURPAN   (France)

^c Laboratoire d'Anatomo Pathologie   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e POITIERS UNIVERSITY HOSPITAL   (France)

^f UNIVERSITÉ DE BORDEAUX   (France)

Author keywords

Chondrodysplasia; Hydrocephaly; Microphthalmia; Platyspondyly; X linked dominant inheritance

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BONE MALFORMATION; BONE RADIOGRAPHY; BRACHYDACTYLY; CHONDRODYSPLASIA; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; DISEASE COURSE; FACIES; FAMILY; FEMALE; FETUS; HUMAN; HYDROCEPHALUS; INFANT; KARYOTYPE; MALE; MENTAL DEFICIENCY; METAPHYSIS; METATARSAL BONE; MICROPHTHALMIA; NEWBORN; PEDIGREE ANALYSIS; PHALANX; PLATYSPONDYLY; PREGNANCY TERMINATION; PRIORITY JOURNAL; SHORT STATURE; SKELETON MALFORMATION; X CHROMOSOME DOMINANT DISORDER;

EID: 23044468799     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30570     Document Type: Article

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