X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.
about
Alpha thalassaemia-mental retardation, X linkedATRX has a critical and conserved role in mammalian sexual differentiationSex determination: lessons from families and embryos.Molecular-clinical spectrum of the ATR-X syndrome.Identifying genes for male sex determination in humans.A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndromeLimb defects and congenital anomalies of the genitalia in an infant with homozygous alpha-thalassemia.
P2860
Q21203051-7FF6B8E4-9DC8-4A66-A532-7CB82A5F6428Q33932185-3C00AC9F-1CEB-4A89-A905-16D4230489FFQ34216571-1E3F5FF4-0948-4BA5-B12F-54CB1C876527Q34306141-516AE196-7BA2-4EF2-8AD6-F7B0D8544862Q34465726-9C0ECC7B-092E-4F23-BC60-748D188154E1Q35882700-BA99BA9B-F27C-4DC6-BFE5-EC051300D399Q41348172-55311637-270F-47DC-8D31-042594027648
P2860
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.
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
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-hant
name
X-linked alpha-thalassemia/men ...... d mild hematologic expression.
@en
X-linked alpha-thalassemia/mental retardation
@nl
type
label
X-linked alpha-thalassemia/men ...... d mild hematologic expression.
@en
X-linked alpha-thalassemia/mental retardation
@nl
prefLabel
X-linked alpha-thalassemia/men ...... d mild hematologic expression.
@en
X-linked alpha-thalassemia/mental retardation
@nl
P2093
P356
P1476
X-linked alpha-thalassemia/men ...... d mild hematologic expression.
@en
P2093
Clemens MM
McPherson EW
P304
P356
10.1002/AJMG.1320550311
P577
1995-01-01T00:00:00Z