Interstitial deletion of 10q: clinical features and literature review.
about
Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?Mutations in SUFU predispose to medulloblastoma.Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeatsInterstitial deletion of chromosome 10q23: a new case and review.How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.Del(10)(q22.3q24.1) associated with juvenile polyposis.
P2860
Interstitial deletion of 10q: clinical features and literature review.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
1992年學術文章
@zh
1992年學術文章
@zh-hant
name
Interstitial deletion of 10q: clinical features and literature review.
@ast
Interstitial deletion of 10q: clinical features and literature review.
@en
type
label
Interstitial deletion of 10q: clinical features and literature review.
@ast
Interstitial deletion of 10q: clinical features and literature review.
@en
prefLabel
Interstitial deletion of 10q: clinical features and literature review.
@ast
Interstitial deletion of 10q: clinical features and literature review.
@en
P2093
P356
P1476
Interstitial deletion of 10q: clinical features and literature review.
@en
P2093
P304
P356
10.1002/AJMG.1320430410
P577
1992-07-01T00:00:00Z