ABCD syndrome
Sign in to saveAlso known as ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS, albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness, ABCDS
Autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)
Research
363 papers- ABCD syndrome, an uncommon cause of hypercalcemia in pediatrics.Archivos argentinos de pediatria · 2024
- Post-COVID Syndrome.Deutsches Arzteblatt international · 2023
- Progression of Myeloproliferative Neoplasms (MPN): Diagnostic and Therapeutic Perspectives.Cells · 2021
- CLINICAL PRACTICE GUIDELINES FOR THE PERIOPERATIVE NUTRITION, METABOLIC, AND NONSURGICAL SUPPORT OF PATIENTS UNDERGOING BARIATRIC PROCEDURES - 2019 UPDATE: COSPONSORED BY AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS/AMERICAN COLLEGE OF ENDOCRINOLOGY, THE OBESITY SOCIETY, AMERICAN SOCIETY FOR METABOLIC & BARIATRIC SURGERY, OBESITY MEDICINE ASSOCIATION, AND AMERICAN SOCIETY OF ANESTHESIOLOGISTS - EXECUTIVE SUMMARY.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2019
- The hepatopulmonary syndrome.Arquivos brasileiros de cirurgia digestiva : ABCD = Brazilian archives of digestive surgery · 2014
via PubMed
Wikidata facts
- Subclass of
- syndrome
Show 4 more facts
- genetic association
- EDNRB
- exact match
- identifiers.org/doid/DOID:0050600
- on focus list of Wikimedia project
- WikiProject Medicine
- health specialty
- genetics
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