Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.
about
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin typeJapanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complexA New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.Genetic basis of congenital upper limb anomalies: analysis of 487 cases of a specialized clinic.Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.Bhlha9 regulates apical ectodermal ridge formation during limb development.Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9.Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.Missing Links Between Genetically Inherited Molecules in Split Cord Malformation and Other Anomaly: A Bench to Bedside Approach.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.
P2860
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P2860
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
Split hand/foot malformation w ...... on: report of 13 new families.
@en
Split hand/foot malformation w ...... on: report of 13 new families.
@nl
type
label
Split hand/foot malformation w ...... on: report of 13 new families.
@en
Split hand/foot malformation w ...... on: report of 13 new families.
@nl
prefLabel
Split hand/foot malformation w ...... on: report of 13 new families.
@en
Split hand/foot malformation w ...... on: report of 13 new families.
@nl
P2093
P2860
P356
P1433
P1476
Split hand/foot malformation w ...... ion: report of 13 new families
@en
P2093
A-S Jourdain
C Beneteau
C Le Caignec
D Gaillard
J Andrieux
P2860
P304
P356
10.1111/CGE.12219
P577
2013-07-15T00:00:00Z