Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.
about
A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases.The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic typeChromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders
P2860
Q26775218-C64BD373-6F22-4A69-9D4C-E8322DF39707Q33844242-C2C7D698-B8DB-4392-8003-02A996E698F5Q37601480-FF2321BD-556F-476F-BF1D-D4CEE4E972B3Q38700482-E084B1E7-3AF1-46B5-84F4-AD9091DBEF14Q41220897-DB6348F5-310B-40E3-B800-3E6F64CF239EQ46123470-D77A018E-5923-4502-BF9E-140BAB7E5190Q47229568-14E634C1-8D56-4168-8477-CAD6256D0B40Q58801736-A5501CB7-0C0A-440D-9A73-36AEF6CF3EDD
P2860
Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh
2015年學術文章
@zh-hant
name
Report of a patient with a con ...... henotype, and schwannomatosis.
@en
Report of a patient with a con ...... henotype, and schwannomatosis.
@nl
type
label
Report of a patient with a con ...... henotype, and schwannomatosis.
@en
Report of a patient with a con ...... henotype, and schwannomatosis.
@nl
prefLabel
Report of a patient with a con ...... henotype, and schwannomatosis.
@en
Report of a patient with a con ...... henotype, and schwannomatosis.
@nl
P2093
P2860
P356
P1476
Report of a patient with a con ...... henotype, and schwannomatosis.
@en
P2093
Christopher L Moertel
Jaclyn A Biegel
Ludwine Messiaen
Nathan Gossai
P2860
P304
P356
10.1002/AJMG.A.37356
P407
P577
2015-09-14T00:00:00Z