Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
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Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin typeExome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complexIdentification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.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.Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 geneSystematic identification of phenotypically enriched loci using a patient network of genomic disordersMechanisms for the Generation of Two Quadruplications Associated with Split-Hand MalformationWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Split-hand/foot malformation - molecular cause and implications in genetic counseling.Transmission ratio distortion: review of concept and implications for genetic association studies.A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.Limb development: a paradigm of gene regulation.Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.Gene dosage of the transcription factor Fingerin (bHLHA9) affects digit development and links syndactyly to ectrodactyly.A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1.Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family.Noncoding copy-number variations are associated with congenital limb malformation.Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.Bhlha9 regulates apical ectodermal ridge formation during limb development.Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia.Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9.Novel copy number variants and major limb reduction malformation: Report of three cases.Sulfotransferase 1A3/4 copy number variation is associated with neurodegenerative disease.Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disordersSpalthand-/SpaltfußfehlbildungenMultiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2)
P2860
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P2860
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
Duplications of BHLHA9 are ass ...... ited in non-Mendelian fashion.
@en
Duplications of BHLHA9 are ass ...... ited in non-Mendelian fashion.
@nl
type
label
Duplications of BHLHA9 are ass ...... ited in non-Mendelian fashion.
@en
Duplications of BHLHA9 are ass ...... ited in non-Mendelian fashion.
@nl
prefLabel
Duplications of BHLHA9 are ass ...... ited in non-Mendelian fashion.
@en
Duplications of BHLHA9 are ass ...... ited in non-Mendelian fashion.
@nl
P2093
P50
P1476
Duplications of BHLHA9 are ass ...... rited in non-Mendelian fashion
@en
P2093
Anna Rajab
Denise Horn
Koenraad Devriendt
Maja Hempel
Matthew Warman
Mohammed Naveed
Renata Soares Thiele de Aguiar
Rolf Habenicht
Sandra C Doelken
Silke Lohan
P304
P356
10.1136/JMEDGENET-2011-100409
P407
P50
P577
2011-12-06T00:00:00Z