A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

European Journal of Medical Genetics

Volumn 54, Issue 5, 2011, Pages

  Bens, Susanne ^a   Haake, Andrea ^a   Tonnies Holger H ^a,b   Vater, Inga ^a   Stephani, Ulrich ^a   Holterhus, Paul Martin ^a   Siebert, Reiner ^a   Caliebe, Almuth ^a  

^a UNIVERSITY OF KIEL   (Germany)

^b ROBERT KOCH INSTITUTE   (Germany)

Author keywords

Ataxia; Deletion 19p13.11; Developmental delay; Microcephaly; Muscular hypotonia; Premature pubarche; Short stature; Split hand and foot malformation

Indexed keywords

CALRETICULIN;

ARTICLE; ATAXIA; CASE REPORT; CHILD; CHROMOSOME 19P; CHROMOSOME DELETION; COPY NUMBER VARIATION; ECTRODACTYLY; EPS15L1 GENE; FACE DYSMORPHIA; FEMALE; GENE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MICROCEPHALY; MUSCLE HYPOTONIA; PHENOTYPE; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; SHORT STATURE;

CALCIUM-BINDING PROTEINS; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 19; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KARYOTYPING; LIMB DEFORMITIES, CONGENITAL; PHENOTYPE; PHOSPHOPROTEINS;

EID: 79961129342     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.05.004     Document Type: Article

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