Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
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Target Concepts:
Gene/Protein
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Query: UMLS:C0039730 (
thalassemia
)
10,305
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The X-linked alpha-
thalassemia
mental retardation (ATR-X) syndrome is a rare genetic condition caused by mutations in the X-encoded gene
ATRX
. Here we describe two unrelated patients of Sri Lankan origin with novel missense variants in the
ATRX
gene: c.839C>T|p.Cys280Tyr and c.5369C>T|p.Ala1790Val. These two novel variants were associated with variable phenotypes which clinically resembled X-linked mental retardation-hypotonic facies syndrome and
Smith-Fineman-Myers syndrome
respectively. These cases expand the clinical spectrum of ATR-X syndrome and open new opportunities for the molecular diagnosis of
ATRX
mutations in male patients with severe global developmental delay and intellectual disabilities.
...
PMID:Two Novel Variants in the
ATRX
Gene Associated with Variable Phenotypes. 3178 20
