A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.
about
Clinical utility of array comparative genomic hybridisation in prenatal setting.Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.An atypical autistic phenotype associated with a 2q13 microdeletion: a case report.Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
P2860
Q36193242-009263E8-9248-4DB1-8CB0-5CDC6EB224DEQ36859420-42F916FB-606E-42F5-A5BF-44E245CFF6E0Q37508181-556F54B1-45BB-490F-9A5D-0CECDF5DE3D3Q47113303-8DD42AA5-4CF9-4DDD-881E-71CFA09705BCQ48173896-F411CEC6-24D8-4DC0-8138-E55CEBB68D2EQ50300963-AFBB448E-AEF7-4742-AE14-9F75EFAA5EACQ55154245-0C8328EA-59DD-447C-A296-26C6CA574D55Q55362263-812F2834-AC51-44F9-A4CE-A888E569308E
P2860
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
A recurrent deletion on chromo ...... and mild facial dysmorphisms.
@ast
A recurrent deletion on chromo ...... and mild facial dysmorphisms.
@en
type
label
A recurrent deletion on chromo ...... and mild facial dysmorphisms.
@ast
A recurrent deletion on chromo ...... and mild facial dysmorphisms.
@en
prefLabel
A recurrent deletion on chromo ...... and mild facial dysmorphisms.
@ast
A recurrent deletion on chromo ...... and mild facial dysmorphisms.
@en
P2093
P2860
P1476
A recurrent deletion on chromo ...... and mild facial dysmorphisms.
@en
P2093
Doriana Misceo
Eva Hladilkova
Iva Slamova
Madeleine Fannemel
Petr Kuglik
Sarka Prasilova
Tuva Barøy
Vesna Bryn
Vladimira Vallova
P2860
P2888
P356
10.1186/S13039-015-0157-0
P577
2015-07-31T00:00:00Z
P5875
P6179
1025867913