Autosomal recessive Oliver-McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction)-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Autosomal recessive Oliver-McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction)

Published:2005 Issue:3 Volume:138A Page:268-271
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Haimi Motti,Gershoni-Baruch Ruth

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference33 articles.

1. Netherton's syndrome in siblings

2. Usher syndrome: Definition and estimate of prevalence from two high-risk populations

3. RETINAL DYSTROPHY COMBINED WITH ALOPECIA

4. Hypotrichosis, hair structure defects, hypercysteine hair and glucosuria: a new genetic syndrome?

Cited by 13 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. Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver–McFarlane Syndromes;International Journal of Molecular Sciences;2024-05-25

2. Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes;Journal of the European Academy of Dermatology and Venereology;2021-12-31

3. Oliver McFarlane syndrome: two new cases and a review of the literature;Ophthalmic Genetics;2021-04-05

4. Identification of Oliver-McFarlane syndrome caused by novel compound heterozygous variants of PNPLA6;Gene;2020-11

5. Oliver McFarlane syndrome and choroidal neovascularisation: a case report;Ophthalmic Genetics;2020-06-25

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP