Microduplications encompassing the sonic hedgehog limb enhancer ZRS are associated with haas-type polysyndactyly and Laurin-Sandrow syndrome

Clinical Genetics

Volumn 86, Issue 4, 2014, Pages 318-325

  Lohan, S ^a,b   Spielmann, M ^a,b,c   Doelken, S C ^a   Flottmann R ^a   Muhammad, F ^d   Baig, S M ^d   Wajid, M ^d   Hulsemann W ^e   Habenicht, R ^e   Kjaer, K W ^f   Patil, S J ^g   Girisha, K M ^h   Abarca Barriga, H H ^i,j   Mundlos, Stefan ^a,b,c   Klopocki, Eva ^a,k  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c Berlin Brandenburg School for Regenerative Therapies (BSRT)   (Germany)

^d NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^e Handchirurgie Kinderkrankenhaus Wilhelmstift   (Germany)

^f UNIVERSITY OF COPENHAGEN   (Denmark)

^g Multispecialty Hospital Shaw Mazumdar Medical Centre   (India)

^h KASTURBA MEDICAL COLLEGE   (India)

ⁱ INSTITUTO NACIONAL DE SALUD DEL NIÑO   (Peru)

^j Centro de Investigación de Genética Humana Wiñay Genética   (Peru)

^k UNIVERSITY OF WÜRZBURG   (Germany)

more..

Author keywords

CNVs; Laurin Sandrow syndrome; Microduplication; SHH; ZRS associated syndromes

Indexed keywords

SONIC HEDGEHOG PROTEIN; SHH PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 7Q; CHROMOSOME 7Q36; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; FIBULA; HAAS TYPE POLYSYNDACTYLY; HUMAN; LAURIN SANDROW SYNDROME; LEG MALFORMATION; MALE; METACARPAL BONE; METATARSAL BONE; PHENOTYPE; POLYDACTYLY; REGULATORY SEQUENCE; SYNDACTYLY; CHROMOSOME 7; CONGENITAL MALFORMATION; FEMALE; FINGER; FOOT MALFORMATION; GENE DUPLICATION; GENE EXPRESSION REGULATION; GENETICS; HAND MALFORMATION; MULTIPLE MALFORMATION SYNDROME; NOSE; PATHOLOGY; PEDIGREE; PHOCOMELIA; TOE;

ERINACEIDAE;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 7; ECTROMELIA; FEMALE; FINGERS; FOOT DEFORMITIES, CONGENITAL; GENE DUPLICATION; GENE EXPRESSION REGULATION; HAND DEFORMITIES, CONGENITAL; HEDGEHOG PROTEINS; HUMANS; MALE; NOSE; PEDIGREE; POLYDACTYLY; REGULATORY SEQUENCES, NUCLEIC ACID; SYNDACTYLY; TOES;

EID: 84908232480     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12352     Document Type: Article

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