Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

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http://www.wikidata.org/entity/Q35477955
Overgrowth Syndromes.A novel mutation of NFIX causes Sotos-like syndrome (Malan syndrome) complicated with thoracic aortic aneurysm and dissection.PAX6 does not regulate Nfia and Nfib expression during neocortical development.Identifying a Deletion Affecting Total Lung Capacity Among Subjects in the COPDGene Study Cohort.19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.Proteome dynamics during postnatal mouse corpus callosum development.Approach to the Diagnosis of Overgrowth Syndromes.Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome.Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
P2860

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Item
http://www.wikidata.org/entity/Q35477955
description
2014 nî lūn-bûn
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2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի օգոստոսին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Malan syndrome: Sotos-like ove ...... nd a review of the literature.
@ast
Malan syndrome: Sotos-like ove ...... nd a review of the literature.
@en
type
label
Malan syndrome: Sotos-like ove ...... nd a review of the literature.
@ast
Malan syndrome: Sotos-like ove ...... nd a review of the literature.
@en
prefLabel
Malan syndrome: Sotos-like ove ...... nd a review of the literature.
@ast
Malan syndrome: Sotos-like ove ...... nd a review of the literature.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Malan syndrome: Sotos-like ove ...... nd a review of the literature.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P5875
P698
P932