Results 71 to 80 of about 1,223,862 (192)
Case Report : Hermansky Pudlak Syndrome (Presenting as late onset heavy Menstrual Bleeding) [PDF]
Journal of Clinical and Diagnostic Research, 2013 Inherited bleeding disorders contribute significantly to the incidence and prevalence of Heavy Menstrual Bleeding (HMB), and contrary to popular belief can present any time during the reproductive years of a woman’s life.
Amita Ray, Sujoy Ray, Jose John Matthew
doaj +1 more source
A Practical Guide to Genetic Eye Conditions for Paediatricians
Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin +5 more
wiley +1 more source
Adaptor protein complexes and intracellular transport
Bioscience Reports, 2014 The AP (adaptor protein) complexes are heterotetrameric protein complexes that mediate intracellular membrane trafficking along endocytic and secretory transport pathways. There are five different AP complexes: AP-1, AP-2 and AP-3 are clathrin-associated
Sang Yoon Park, Xiaoli Guo
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Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant
Clinical Case Reports, Volume 13, Issue 9, September 2025.ABSTRACT Oculocutaneous albinism type IA (OCA1A) is a rare autosomal recessive disorder caused by variants in the TYR gene, resulting in complete loss of tyrosinase activity and absence of melanin production. In this study, we report a novel missense variant, TYR (NM_000372.5):c.143A>C (p.Gln48Pro), found within exon 1 and mapped to chr11: g.89178096A ...
Raghad N. Shihab +5 more
wiley +1 more source
, 2018 Representative whole-mount electron micrographs of platelets from a patient with Hermansky-Pudlak syndrome (A) and normal platelets (B) are shown (bar = 1 micrometer). Normal platelets contain delta granules (arrows), and platelets from patients with HPS
Ye Cui (2273386) +14 more
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Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7 [PDF]
, 2020 Deletion of dystrobrevin binding protein 1 has been linked to Hermansky-Pudlak syndrome type 7 (HPS-7), a rare disease characterized by oculocutaneous albinism and retinal dysfunction.
Giunta S. +15 more
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Hermansky-pudlak syndrome: report of a case and review of the literature.
, 2008 Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital ...
Hurford, Matthew T +1 more
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Hermansky-Pudlak syndrome: a case report and discussion
, 1998 Hermansky-Pudlak syndrome is a rare, inherited, autosomal recessive disease. Diagnosis is based on a triad of signs: oculocutaneous albinism, a hemorrhagic tendency due to a platelet disorder, and an accumulation of lipopigments in different organs ...
Vanhooteghem, O. +4 more
core +1 more source
A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses
American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu +10 more
wiley +1 more source
BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
, 2020 Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, excessive bleeding, and often additional symptoms. Variants in ten different genes have been involved in HPS. However, some patients lack variants in these genes.
Fanny Morice Picard +37 more
core +1 more source