Young–Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference13 articles.
1. Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).
2. Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.
3. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
4. Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient.
5. Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Mini-Review Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes;Genetics and Molecular Research;2016
2. Delineating the phenotype of 1p36 deletion in adolescents and adults;American Journal of Medical Genetics Part A;2014-07-08
3. The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings;American Journal of Medical Genetics Part A;2011-02-22
4. Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome;Clinical Genetics;2009-08
5. Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child;American Journal of Medical Genetics Part A;2009-04-24
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