A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
about
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.Lessons learned from the search for genes responsible for rare Mendelian disorders.Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A.
P2860
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
A Syndromic Intellectual Disab ...... Component of the TTT Complex.
@en
type
label
A Syndromic Intellectual Disab ...... Component of the TTT Complex.
@en
prefLabel
A Syndromic Intellectual Disab ...... Component of the TTT Complex.
@en
P2093
P2860
P1476
A Syndromic Intellectual Disab ...... Component of the TTT Complex.
@en
P2093
Ashley Siniard
David Valle
Dorothy K Grange
Dustin L Gable
Isabelle Schrauwen
Julie Hoover-Fong
Julie Jurgens
Mary Beth P Dinulos
Nara L Sobreira
P2860
P304
P356
10.1016/J.AJHG.2016.03.014
P407
P577
2016-04-27T00:00:00Z