Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: Clinical report and review of the literature-Reference-Cited by-同舟云学术

Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: Clinical report and review of the literature

Published:2005 Issue:1 Volume:137A Page:81-87
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

de Ru M.H.,Gille J.J.P.,Nieuwint A.W.M.,Bijlsma J.B.,van der Blij J.F.,van Hagen J.M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference36 articles.

1. Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23----q25.

2. Interstitial deletion of the long arm of chromosome 3: Case report, review, and definition of a phenotype

3. Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]

4. Another example favouring the location of BPES at 3q2.

Cited by 28 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. A novel 3q interstitial deletion including GATA2 and ZNF148: A case report;American Journal of Medical Genetics Part A;2024-04-03

2. Functional Studies of Novel FOXL2 Variants in Chinese Families With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome;Frontiers in Genetics;2021-03-16

3. ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome;Open Life Sciences;2021-01-01

4. Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature;Molecular Syndromology;2019

5. Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients;American Journal of Medical Genetics Part A;2017-11-21