Distinct cAMP Signaling Microdomains Differentially Regulate Melanosomal pH and Pigmentation. Academic Article uri icon

Overview

abstract

  • The purpose of this overview is to: 1.. Briefly describe the clinical characteristics of oculocutaneous albinism and ocular albinism; 2.. Review the genetic causes of oculocutaneous albinism and ocular albinism; 3.. Review the differential diagnosis of oculocutaneous albinism and ocular albinism with a focus on genetic conditions; 4.. Provide an evaluation strategy to identify the genetic cause of oculocutaneous albinism or ocular albinism in a proband (when possible); 5.. Review management of oculocutaneous albinism and ocular albinism; 6.. Inform genetic counseling of an individual with oculocutaneous albinism or ocular albinism and their family members.

publication date

  • May 2, 2023

Research

keywords

  • Adenylyl Cyclases
  • Melanins

Identity

PubMed Central ID

  • PMC10524761

Scopus Document Identifier

  • 85165010965

Digital Object Identifier (DOI)

  • 10.1016/j.jid.2023.04.011

PubMed ID

  • 37142186

Additional Document Info

volume

  • 143

issue

  • 10