Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

about

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.

P2860

Q36480535-8E6B687B-EFFD-4566-9459-161846131FC8 Q39906643-3ACEAD52-3DC6-4F8C-9EAA-7E61F4DB9E08

P2860

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

Item

http://www.wikidata.org/entity/Q38210007

description

article científic

@ca

article scientifique

@fr

articol științific

@ro

articolo scientifico

@it

artigo científico

@gl

artigo científico

@pt

artigo científico

@pt-br

artikel ilmiah

@id

artikull shkencor

@sq

artículo científico

@es

name

Alpha-thalassemia intellectual ...... mutation - c.109C>T (p.R37X).

@en

type

Item

label

Alpha-thalassemia intellectual ...... mutation - c.109C>T (p.R37X).

@en

prefLabel

Alpha-thalassemia intellectual ...... mutation - c.109C>T (p.R37X).

@en

P1476

Alpha-thalassemia intellectual ...... mutation - c.109C>T (p.R37X).

@en

P2093

A Alexandrou

http://www.w3.org/2001/XMLSchema#string

C E Schwartz

http://www.w3.org/2001/XMLSchema#string

C Sismani

http://www.w3.org/2001/XMLSchema#string

C Skinner

http://www.w3.org/2001/XMLSchema#string

F Abidi

http://www.w3.org/2001/XMLSchema#string

G Raymond

http://www.w3.org/2001/XMLSchema#string

L Holloway

http://www.w3.org/2001/XMLSchema#string

M J Basehore

http://www.w3.org/2001/XMLSchema#string

M J Friez

http://www.w3.org/2001/XMLSchema#string

M Syrrou

http://www.w3.org/2001/XMLSchema#string

P2860

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.

Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.

α-Thalassemia, mental retardation, and myelodysplastic syndrome.

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.

Mutations in the chromatin-associated protein ATRX.

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33.

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome.

P304

461-466

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1111/CGE.12420

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

P577

2014-05-30T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

262146852

http://www.w3.org/2001/XMLSchema#string

P698

24805811

http://www.w3.org/2001/XMLSchema#string

P921

disability

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

about

P2860

P2860

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P921