CDH3-related syndromes: Report on a new mutation and overview of the genotype-phenotype correlations

Molecular Syndromology

Volumn 1, Issue 5, 2011, Pages 223-230

  Basel Vanagaite, L ^a,b,c   Pasmanik Chor, M ^c   Lurie, R ^a   Yeheskel, A ^c   Kjaer, K W ^d  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^b RABIN MEDICAL CENTER   (Israel)

^c TEL AVIV UNIVERSITY   (Israel)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Ectrodactyly; Hypotrichosis; Macular dystrophy; Syndactyly

Indexed keywords

CADHERIN;

ADOLESCENT; CASE REPORT; CDH3 GENE; CORRELATIONAL STUDY; ECTODERMAL DYSPLASIA; ECTRODACTYLY; FEMALE; GENE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; REVIEW;

EID: 79957526285     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000327156     Document Type: Review

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