Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.
about
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeDNA methylation based testing of 450 patients suspected of having Prader-Willi syndromeA novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3qLinkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.Management of Patella Dislocation in Say-Barber-Biesecker-Young-Simpson's Syndrome: A Report of Two Cases.
P2860
Q24629790-47D1DE1C-8B9F-4DD1-9CDE-EA5366EFC1E7Q33675694-C0A2522E-9BE0-410B-92F7-AD3EBAACDC65Q33679452-7EA4155E-66E1-4B04-9C8A-66D5047986EBQ33682561-55E47C9B-9AA6-42C5-8194-74310176414BQ37153544-1F10D4D8-886A-486A-88D6-412C1ADC59B4Q41824480-71293E0E-D77A-4632-9510-EB9147CB4240Q55263618-AEBDB769-13A3-446F-A73E-14C829E40BC7
P2860
Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年学术文章
@wuu
1994年学术文章
@zh
1994年学术文章
@zh-cn
1994年学术文章
@zh-hans
1994年学术文章
@zh-my
1994年学术文章
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1994年學術文章
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1994年學術文章
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name
Ohdo-like blepharophimosis syn ...... rdation and hypoplastic teeth.
@en
Ohdo-like blepharophimosis syn ...... rdation and hypoplastic teeth.
@nl
type
label
Ohdo-like blepharophimosis syn ...... rdation and hypoplastic teeth.
@en
Ohdo-like blepharophimosis syn ...... rdation and hypoplastic teeth.
@nl
prefLabel
Ohdo-like blepharophimosis syn ...... rdation and hypoplastic teeth.
@en
Ohdo-like blepharophimosis syn ...... rdation and hypoplastic teeth.
@nl
P2093
P1476
Ohdo-like blepharophimosis syn ...... rdation and hypoplastic teeth.
@en
P2093
Clayton-Smith J
Krajewska-Walasek M
P304
P577
1994-04-01T00:00:00Z