Literature DB >> 11826030

Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.

K Becker, P L Beales, D M Calver, G Matthijs, S N Mohammed.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2002        PMID： 11826030      PMCID： PMC1734967          DOI： 10.1136/jmg.39.1.68

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  6 in total

1.  Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.

Authors:  J Kohlhase; L Schubert; M Liebers; A Rauch; K Becker; S N Mohammed; R Newbury-Ecob; W Reardon
Journal:  J Med Genet       Date:  2003-07       Impact factor: 6.318

2.  Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.

Authors:  E Ullah; D Wu; L Madireddy; R Lao; P Ling-Fung Tang; E Wan; T Bardakjian; S Kopinsky; P-Y Kwok; A Schneider; S Baranzini; M Ansar; A Slavotinek
Journal:  Ophthalmic Genet       Date:  2016-09-23       Impact factor: 1.803

3.  [Okihiro syndrome : Duane's syndrome and radial malformations of the limbs].

Authors:  A H Haus; J Kohlhase; B Käsmann; B Seitz
Journal:  Ophthalmologe       Date:  2008-06       Impact factor: 1.059

4.  Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome).

Authors:  Elena Garcia-Martin; Isabel Pinilla; Carmen Almarcegui; Javier Fernandez; Elizabeth C Engle; Feliciano J Ramos
Journal:  Binocul Vis Strabolog Q Simms Romano       Date:  2012

5.  Temporal changes of Sall4 lineage contribution in developing embryos and the contribution of Sall4-lineages to postnatal germ cells in mice.

Authors:  Naoyuki Tahara; Hiroko Kawakami; Teng Zhang; David Zarkower; Yasuhiko Kawakami
Journal:  Sci Rep       Date:  2018-11-06       Impact factor: 4.379

6.  Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.

Authors:  Ming-ming Yang; Mary Ho; Henry H W Lau; Pancy O S Tam; Alvin L Young; Chi Pui Pang; Wilson W K Yip; LiJia Chen
Journal:  Mol Vis       Date:  2013-05-06       Impact factor: 2.367
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.