A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics-Reference-Cited by-同舟云学术

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A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics

Published:2006-11 Issue:11 Volume:27 Page:1158-1158
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Schreyer-Shafir Nira,Huizing Marjan,Anikster Yair,Nusinker Ziva,Bejarano-Achache Idit,Maftzir Genia,Resnik Luba,Helip-Wooley Amanda,Westbroek Wendy,Gradstein Libe,Rosenmann Ada,Blumenfeld Anat

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 25 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. Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population;Clinica Chimica Acta;2024-07

2. Novel Variants of <i>HPS6</i> Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of <i>HPS6</i> Variants;Ophthalmic Research;2023-12-13

3. Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease;Cureus;2023-10-30

4. Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism;Life;2021-12-23

5. Absence of dense platelet granules and ceroid-laden macrophages: Investigating the diversity of clinical presentations in Hermansky-Pudlak syndrome;Human Pathology: Case Reports;2021-09

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