Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
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Drug
Enzyme
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Query: UMLS:C0026827 (
hypotonia
)
5,860
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Mutations in the
XNP
gene have been reported in alpha thalassemia/mental retardation (MR) syndrome (ATR-X) and other severe X-linked MR conditions with facial dysmorphisms. In this report, we describe a missense mutation in exon 18 in a family with borderline to moderate MR. Like other disorders associated with an
XNP
mutation, skewed X-inactivation was found in all carrier females in this family. Only retrospective examination revealed childhood facial
hypotonia
and HbH inclusions in some of the affected males. These results expand the spectrum of clinical phenotypes known to be due to mutations in the
XNP
gene, and indicate that
XNP
mutation analysis should not be restricted to patients with severe MR and characteristic facial features.
...
PMID:Expanding phenotype of XNP mutations: mild to moderate mental retardation. 1211 32
