ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).

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dc.contributor.authorThakur, Seema
dc.contributor.authorIshrie, Mala
dc.contributor.authorSaxena, Renu
dc.contributor.authorDanda, Sumita
dc.contributor.authorLinda, Rose
dc.contributor.authorViswabandya, Auro
dc.contributor.authorVerma, I C
dc.date.accessioned2012-01-10T06:27:47Z
dc.date.available2012-01-10T06:27:47Z
dc.date.issued2011-10
dc.description.abstractATR-X syndrome is an X-linked mental retardation syndrome characterized by mental retardation, alpha thalassaemia and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth. Here we report two brothers with clinical features of ATR-X syndrome, in whom a novel missense (C>T) mutation was identified in exon 31 of the ATRX gene.en_US
dc.identifier.citationThakur Seema, Ishrie Mala, Saxena Renu, Danda Sumita, Linda Rose, Viswabandya Auro, Verma I C. ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31). Indian Journal of Medical Research. 2011 Oct; 134(4): 483-486.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/136348
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237247/en_US
dc.subjectAlpha-thalassaemiaen_US
dc.subjectATR-Xen_US
dc.subjectdevelopmental delayen_US
dc.subjectX-inactivationen_US
dc.subject.meshDNA Helicases --genetics
dc.subject.meshExons --genetics
dc.subject.meshHumans
dc.subject.meshInfant
dc.subject.meshMale
dc.subject.meshMental Retardation, X-Linked --genetics
dc.subject.meshMutation, Missense
dc.subject.meshNuclear Proteins --genetics
dc.subject.meshSiblings
dc.subject.meshalpha-Thalassemia --genetics
dc.titleATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).en_US
dc.typeArticleen_US
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