Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome.
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Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical ChallengeMutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunctionPitt-Hopkins Syndrome.Prevalence of treated autism spectrum disorders in Aruba.The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.Development, cognition, and behaviour in Pitt-Hopkins syndrome.TCF4 (e2-2; ITF2): a schizophrenia-associated gene with pleiotropic effects on human disease.Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.Genetic disorders associated with postnatal microcephaly.Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.Possible case of Pitt-Hopkins syndrome in sibs.The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
P2860
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P2860
Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
Mental retardation, "coarse" f ...... of the Pitt-Hopkins syndrome.
@en
type
label
Mental retardation, "coarse" f ...... of the Pitt-Hopkins syndrome.
@en
prefLabel
Mental retardation, "coarse" f ...... of the Pitt-Hopkins syndrome.
@en
P2093
P2860
P1476
Mental retardation, "coarse" f ...... of the Pitt-Hopkins syndrome.
@en
P2093
Hennekam RC
Van Balkom ID
P2860
P304
P356
10.1002/(SICI)1096-8628(19980123)75:3<273::AID-AJMG9>3.0.CO;2-R
P577
1998-01-01T00:00:00Z