Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review.
about
Familial syndromic esophageal atresia maps to 2p23-p24.Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD clusterA 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactylySorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotypeHuman HOX gene mutationsLimb malformations and the human HOX genesDlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformationSplit-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.Chromosome abnormalities and the genetics of congenital corneal opacification.Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.Ocular anomalies associated with interstitial deletion of chromosome 2q31: case report and review.Breakpoints around the HOXD cluster result in various limb malformations.Split-hand/foot malformation - molecular cause and implications in genetic counseling.2q31.1 microdeletion syndrome: case report and literature review.Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation.A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation.Two cases with interstitial deletions of chromosome 2 and sex reversal in one.A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations.Ocular coloboma and radial aplasia: syndrome or association.Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.
P2860
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P2860
Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
1995年學術文章
@zh
1995年學術文章
@zh-hant
name
Deletion of chromosome 2q24-q3 ...... alies: case report and review.
@en
Deletion of chromosome 2q24-q3 ...... alies: case report and review.
@nl
type
label
Deletion of chromosome 2q24-q3 ...... alies: case report and review.
@en
Deletion of chromosome 2q24-q3 ...... alies: case report and review.
@nl
prefLabel
Deletion of chromosome 2q24-q3 ...... alies: case report and review.
@en
Deletion of chromosome 2q24-q3 ...... alies: case report and review.
@nl
P2093
P356
P1476
Deletion of chromosome 2q24-q3 ...... alies: case report and review.
@en
P2093
Roberts DJ
Yang-Feng TL
P304
P356
10.1002/AJMG.1320550204
P577
1995-01-01T00:00:00Z