Mild campomelic dysplasia: Report on a case and review

Molecular Syndromology

Volumn 1, Issue 4, 2011, Pages 163-168

  Corbani, S ^a   Chouery, E ^a   Eid, B ^b   Jalkh, N ^a   Abou Ghoch, J ^a   Megarbane A ^a,c  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c Institute Jérôme Lejeune   (France)

Author keywords

Bone dysplasia; Dysmorphology; Malformations; Mental retardation; SOX9

Indexed keywords

BODY POSTURE; BRACHYDACTYLY; CAMPOMELIC DYSPLASIA; CASE REPORT; CHILD; CLINODACTYLY; FACE DYSMORPHIA; FEMALE; GENE SEQUENCE; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PUBIS SYMPHYSIS; REVIEW; SCHOOL CHILD;

EID: 79951655947     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000322861     Document Type: Review

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