Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

Journal of Medical Genetics

Volumn 49, Issue 2, 2012, Pages 119-125

  Klopocki, Eva ^a,b   Lohan, Silke ^a,b   Doelken, Sandra C ^a   Stricker, Sigmar ^b   Ockeloen, Charlotte W ^c   de Aguiar, Renata Soares Thiele ^d   Lezirovitz, Karina ^d   Netto, Regina Celia Mingroni ^d   Jamsheer, Aleksander ^e,f   Shah, Hitesh ^g   Kurth, Ingo ^h   Habenicht, Rolf ⁱ   Warman, Matthew ^j   Devriendt, Koenraad ^k   Kordaß, Ulrike ^l   Hempel, Maja ^m,n   Rajab, Anna ^o   Mäkitie, Outi ^p   Naveed, Mohammed ^q   Radhakrishna, Uppala ^r   Antonarakis, Stylianos E ^r,s   Horn, Denise ^a   Mundlos, Stefan ^a,b   more..

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

^e POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^f NZOZ Center for Medical Genetics   (Poland)

^g KASTURBA MEDICAL COLLEGE   (India)

^h JENA UNIVERSITY HOSPITAL   (Germany)

ⁱ Kath Kinderkrankenhaus Wilhemstift   (Germany)

^j BOSTON CHILDREN S HOSPITAL   (United States)

^k UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^l UNIVERSITY MEDICINE GREIFSWALD   (Germany)

^m TECHNICAL UNIVERSITY OF MUNICH   (Germany)

ⁿ INSTITUTE OF EPIDEMIOLOGY   (Germany)

^o MINISTRY OF HEALTH   (Oman)

^p UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^q CENTRE FOR ARAB GENOMIC STUDIES   (United Arab Emirates)

^r UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^s GENEVA UNIVERSITY HOSPITALS   (Switzerland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR BHLHA9; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHROMOSOME 17P; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; ECTRODACTYLY; EMBRYO; FEMALE; FIN (ORGAN); GENE DUPLICATION; GENE LOCUS; HEMIMELIA; HUMAN; IN SITU HYBRIDIZATION; LIMB BUD; LIMB DEVELOPMENT; MAJOR CLINICAL STUDY; MALE; MESENCHYME; MOUSE; NONHUMAN; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; TIBIA HEMIMELIA; ZEBRA FISH;

ANIMALS; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; ECTROMELIA; FEMALE; FINGERS; GENE DUPLICATION; GENE KNOCKDOWN TECHNIQUES; GENETIC ASSOCIATION STUDIES; GENOTYPE; HAND DEFORMITIES, CONGENITAL; HUMANS; INHERITANCE PATTERNS; LIMB DEFORMITIES, CONGENITAL; MALE; PEDIGREE; PHENOTYPE; TIBIA; ZEBRAFISH;

DANIO RERIO;

EID: 84855988700     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100409     Document Type: Article

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