Purpose Availability of clinical genomic sequencing (CGS) has generated questions about
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …

Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

Oculocutaneous albinism (OCA), which is roughly divided into non‐syndromic and
syndromic OCA, is a group of autosomal recessive disorders caused by mutations in genes …

Hermansky–Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem
disorders, each defined by the deficiency of a specific gene. HPS‐associated genes encode …

Albinism, which is commonly inherited as an autosomal recessive trait, is characterized by a
reduction or absence of melanin in the eyes, skin, and hair. To date, more than 20 causal …

Hermansky–Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by
oculocutaneous albinism (OCA), a bleeding tendency, and ceroid deposition. Most of the …

Abstract Background Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet
disorder characterized by bleeding diathesis, oculocutaneous albinism (OCA) and a myriad …

Background: Oculocutaneous albinism (OCA) is an autosomal recessive disorder of low or
missing pigmentation in the eyes, hair, and skin. Multiple types of OCA, including …

Heřmanský–Pudlák syndrome (HPS), a rare autosomal recessive disorder, manifests with
oculocutaneous albinism and a bleeding diathesis. However, severity of disease can be …

Abstract Purpose Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder
characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment …