Acampomelic form of campomelic dysplasia with SOX9 missense mutation

Indian Journal of Pediatrics

Volumn 81, Issue 1, 2014, Pages 98-100

  Gopakumar, Hariharan ^a   Superti Furga, Andrea ^b   Unger, Sheila ^b   Scherer, Gerd ^c   Rajiv, P K ^a   Nampoothiri, Sheela ^a  

^a AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Acampomelic campomelic dysplasia; Campomelic dysplasia; Skeletal dysplasia; SOX9 mutation

Indexed keywords

TRANSCRIPTION FACTOR SOX9; SOX9 PROTEIN, HUMAN;

ACAMPOMELIC CAMPOMELIC DYSPLASIA; ANAMNESIS; ARTICLE; BODY HEIGHT; BONE AGE; BONE BOWING; CAMPOMELIC DYSPLASIA; CASE REPORT; CERVICAL SPINAL CORD; CODON; DIAGNOSTIC ERROR; FACE MALFORMATION; GENE; GENE SEQUENCE; HEAD CIRCUMFERENCE; HETEROZYGOSITY; HUMAN; HYPOPLASIA; INFANT; MALE; MANDIBLE HYPOPLASIA; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; RESPIRATORY DISTRESS; SCAPULA; SCAPULAR HYPOPLASIA; SOX9 GENE; GENETICS; NEWBORN;

CAMPOMELIC DYSPLASIA; HUMANS; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; SOX9 TRANSCRIPTION FACTOR;

EID: 84898837151     PISSN: 00195456     EISSN: 09737693     Source Type: Journal    
DOI: 10.1007/s12098-013-1007-x     Document Type: Article

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