De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.
about
Inferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort studyBlake's pouch cyst and Werdnig-Hoffmann disease: Report of a new association and review of the literature.Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyriaDandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.Spectrum of neurodevelopmental disabilities: a cohort study in hungary.Chromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography.Park Spearin Gerald: a tribute.Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome.
P2860
Q27315776-336D2965-B1A0-4C49-9C38-EF886DB02301Q30851802-FE686A88-430F-4314-8711-E76272159270Q35008852-800FABF5-C461-48C5-8974-B354C4CBEB7EQ36885141-83359170-5179-42E7-B9E5-564D53AC6532Q44244898-04E52728-D3B6-41D6-9CED-2D52C7A23057Q48304512-D582084B-5A6C-497E-B0B1-FAB7E2351698Q48421777-4047F105-C46C-42DF-A69B-9B193CC8CD9DQ52776154-52698C78-F2F6-4D60-885A-01DE375641A3Q53079016-F3CB6C62-DC17-4841-9AD3-F4E8566809EF
P2860
De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
De novo interstitial deletion ...... nd global developmental delay.
@en
De novo interstitial deletion ...... nd global developmental delay.
@nl
type
label
De novo interstitial deletion ...... nd global developmental delay.
@en
De novo interstitial deletion ...... nd global developmental delay.
@nl
prefLabel
De novo interstitial deletion ...... nd global developmental delay.
@en
De novo interstitial deletion ...... nd global developmental delay.
@nl
P2093
P2860
P356
P1476
De novo interstitial deletion ...... nd global developmental delay.
@en
P2093
Byung Chan Lim
Eul-Ju Seo
Jong Hee Chae
Ki Joong Kim
Woong Yang Park
Yong Seung Hwang
P2860
P304
P356
10.1177/0883073810384996
P577
2011-04-06T00:00:00Z