Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: A new autosomal recessive syndrome?-Reference-Cited by-同舟云学术

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Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: A new autosomal recessive syndrome?

Published:1994-04-15 Issue:3 Volume:50 Page:224-227
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kotzot Dieter,Richter Konrad,Gierth-Fiebig Kornelia

Publisher

Wiley

Subject

Genetics(clinical)

Reference12 articles.

1. Oculocerebral syndrome with hypopigmentation (Cross syndrome): Report of two siblings born to consanguineous parents

2. A syndrome associating partial albinism and immunodeficiency

3. Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.

4. X-linked ocular albinism

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2. Hermansky-Pudlak Syndrome: Spectrum in Oman;Journal of Pediatric Hematology/Oncology;2022-09-21

3. 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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5. Hermansky-Pudlak Syndrome 2 (HPS-2);Genetic Syndromes;2020

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