Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome

American Journal of Human Genetics

Volumn 88, Issue 1, 2011, Pages 92-98

  Abouzeid, Hana ^a,b   Boisset, Gaëlle ^a   Favez, Tatiana ^a   Youssef, Mohamed ^c   Marzouk, Iman ^c   Shakankiry, Nihal ^c   Bayoumi, Nader ^c   Descombes, Patrick ^d   Agosti, Céline ^a   Munier, Francis L ^a,b   Schorderet, Daniel F ^a,b,e  

^a Institute for Research in Ophthalmology IRO   (Switzerland)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c ALEXANDRIA UNIVERSITY   (Egypt)

^d UNIVERSITY OF GENEVA   (Switzerland)

^e EPFL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 4; CALCIUM BINDING PROTEIN; OSTEONECTIN; PROTEIN SECRETED MODULAR CALCIUM BINDING 1; TRANSCRIPTION FACTOR OTX2; UNCLASSIFIED DRUG; ZEBRAFISH PROTEIN;

ANOPHTHALMIA; ARTICLE; CAMPTODACTYLY; CASE REPORT; CHILD; CHROMOSOME 10P; CLINODACTYLY; CONSANGUINITY; EMBRYO; EYE DEVELOPMENT; FEMALE; FLATFOOT; GENE EXPRESSION; GENE MUTATION; GENE SILENCING; GENETIC HETEROGENEITY; HOMOZYGOSITY; HUMAN; MICROPHTHALMIA; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SYNDACTYLY; WAARDENBURG SYNDROME;

ADULT; BASE SEQUENCE; CHILD; CONSANGUINITY; EYE; FEMALE; FINGERS; GENES, RECESSIVE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OSTEONECTIN; PEDIGREE; WAARDENBURG'S SYNDROME;

DANIO RERIO;

EID: 78650887493     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.12.002     Document Type: Article

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