Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): Additional support for functional haploinsufficiency as the causative mechanism

European Journal of Human Genetics

Volumn 17, Issue 11, 2009, Pages 1432-1438

  van Silfhout, Anneke T ^a   van den Akker, Peter C ^a   Dijkhuizen, Trijnie ^a   Verheij, Joke B G M ^a   Olderode Berends, Maran J W ^a   Kok, Klaas ^a   Sikkema Raddatz, Birgit ^a   van Ravenswaaij Arts, Conny M A ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR DLX5; TRANSCRIPTION FACTOR DLX6; TRANSCRIPTION FACTOR DSS1; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CENTROMERE; CHILD; CHROMOSOME 7Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME INVERSION; COMPARATIVE GENOMIC HYBRIDIZATION; DOWN REGULATION; ECTRODACTYLY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DISRUPTION; GENE EXPRESSION; HAPLOIDY; HUMAN; INFANT; MALE; PATHOGENESIS; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; MALE;

EID: 70350389374     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.72     Document Type: Article

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