Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
ContributorsKlopocki, Eva; Lohan, Silke; Doelken, Sandra C; Stricker, Sigmar; Ockeloen, Charlotte W; Soares Thiele de Aguiar, Renata; Lezirovitz, Karina; Mingroni Netto, Regina Celia; Jamsheer, Aleksander; Shah, Hitesh; Kurth, Ingo; Habenicht, Rolf; Warman, Matthew; Devriendt, Koenraad; Kordass, Ulrike; Hempel, Maja; Rajab, Anna; Mäkitie, Outi; Naveed, Mohammed; Radhakrishna, Uppala; Antonarakis, Stylianos; Horn, Denise; Mundlos, Stefan
Published inJournal of medical genetics, vol. 49, no. 2, p. 119-125
Publication date2012
Abstract
Keywords
- Animals
- Basic Helix-Loop-Helix Transcription Factors/genetics
- Ectromelia/genetics
- Female
- Fingers/abnormalities
- Gene Duplication
- Gene Knockdown Techniques
- Genetic Association Studies
- Genotype
- Hand Deformities, Congenital/genetics
- Humans
- Inheritance Patterns
- Limb Deformities, Congenital/genetics
- Male
- Pedigree
- Phenotype
- Tibia/abnormalities
- Zebrafish/embryology/genetics
Citation (ISO format)
KLOPOCKI, Eva et al. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. In: Journal of medical genetics, 2012, vol. 49, n° 2, p. 119–125. doi: 10.1136/jmedgenet-2011-100409
Main files (1)
Article (Published version)
Identifiers
- PID : unige:34655
- DOI : 10.1136/jmedgenet-2011-100409
- PMID : 22147889
ISSN of the journal0022-2593