Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

Mesoaxial synostotic syndactyly, Malik-Percin type (MSSD) (syndactyly type IX) is a rare autosomal-recessive nonsyndromic digit anomaly with only two affected families reported so far. We previously showed that the trait is genetically distinct from other syndactyly types, and through autozygosity m...

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Veröffentlicht in:	American journal of human genetics 2014-12, Vol.95 (6), p.649-659
Hauptverfasser:	Malik, Sajid, Percin, Ferda E., Bornholdt, Dorothea, Albrecht, Beate, Percesepe, Antonio, Koch, Manuela C., Landi, Antonio, Fritz, Barbara, Khan, Rizwan, Mumtaz, Sara, Akarsu, Nurten A., Grzeschik, Karl-Heinz
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Amino acids Basic Helix-Loop-Helix Transcription Factors - genetics Binding Sites Chromosomes Deoxyribonucleic acid Dimerization DNA DNA Mutational Analysis Female Fingers - abnormalities Gene expression Genes, Reporter Genetic disorders Genotype Haplotypes Humans Italy Male Middle Aged Mutation, Missense Pakistan Pedigree Phenotype Protein Binding Protein Structure, Tertiary Proteins Sequence Alignment Syndactyly - genetics Toes - abnormalities Turkey Young Adult
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