Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: Array CGH screening of 134 unrelated families

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Tayebi, Naeimeh ^a,b   Jamsheer, Aleksander ^c,d   Flöttmann, Ricarda ^a   Sowinska Seidler, Anna ^c   Doelken, Sandra C ^a   Oehl Jaschkowitz, Barbara ^e   Hülsemann, Wiebke ^f   Habenicht, Rolf ^f   Klopocki, Eva ^a,g   Mundlos, Stefan ^a,b,h   Spielmann, Malte ^a,b,h  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^d NZOZ Center for Medical Genetics   (Poland)

^e Gemeinschaftspraxis für Humangenetik Homburg Saar   (Germany)

^f Kinderkrankenhaus Wilhelmstift   (Germany)

^g UNIVERSITY OF WÜRZBURG   (Germany)

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

Author keywords

DLX5 6; DYNC1I1; eExons; Regulatory Mutations; SHFM

Indexed keywords

DYNC1I1 PROTEIN; GENOMIC DNA; PROTEIN; TP63 PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR DLX5; TRANSCRIPTION FACTOR DLX6; UNCLASSIFIED DRUG; CYTOPLASMIC DYNEIN; DYNC1I1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 10Q; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MICROARRAY; ECTRODACTYLY; ENHANCER REGION; EXON; FAMILY; FEMALE; GENE ACTIVITY; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SCREENING; HEARING IMPAIRMENT; HUMAN; MALE; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; PHENOTYPE; REAL TIME POLYMERASE CHAIN REACTION; GENETICS; LIMB MALFORMATION; PEDIGREE;

COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOPLASMIC DYNEINS; EXONS; FEMALE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; PEDIGREE;

EID: 84906534006     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-014-0108-6     Document Type: Article

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