Molecular study of three lebanese and syrian patients with waardenburg syndrome and report of novel mutations in the EDNRB and MITF genes

Molecular Syndromology

Volumn 1, Issue 4, 2011, Pages 169-175

  Haddad, N M ^a,c   Ente, D ^d   Chouery, E ^a   Jalkh, N ^a   Mehawej, C ^a   Khoueir, Z ^b   Pingault, V ^d,e   Megarbane A ^a  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^e FACULTÉ DE MÉDECINE   (France)

Author keywords

Autosomal dominant; Autosomal recessive; Gene; Lebanon; Mutation; Syria; Waardenburg syndrome

Indexed keywords

ADULT; ARTICLE; BLOOD EXAMINATION; CASE REPORT; CHILD; EXON; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HIRSCHSPRUNG DISEASE; HOMOZYGOSITY; HUMAN; HYPOPIGMENTATION; MALE; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; WAARDENBURG SYNDROME;

EID: 79951658700     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000322891     Document Type: Article

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