Somatic mosaicism in a patient with neurofibromatosis type 1.
about
Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literaturePiecing together the puzzle of cutaneous mosaicism.Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's HospitalThe NF1 somatic mutational landscape in sporadic human cancers.Somatic mosaicism in hemophilia A: a fairly common event.Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.Mosaic RASopathies.Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
P2860
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P2860
Somatic mosaicism in a patient with neurofibromatosis type 1.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Somatic mosaicism in a patient with neurofibromatosis type 1.
@ast
Somatic mosaicism in a patient with neurofibromatosis type 1.
@en
type
label
Somatic mosaicism in a patient with neurofibromatosis type 1.
@ast
Somatic mosaicism in a patient with neurofibromatosis type 1.
@en
prefLabel
Somatic mosaicism in a patient with neurofibromatosis type 1.
@ast
Somatic mosaicism in a patient with neurofibromatosis type 1.
@en
P2093
P2860
P1476
Somatic mosaicism in a patient with neurofibromatosis type 1.
@en
P2093
C R Abernathy
M R Wallace
S A Rasmussen
S D Colman
P2860
P304
P407
P577
1996-03-01T00:00:00Z