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ABCD syndrome

Albinism, Black lock, Cell migration disorder of the neurocytes of the gut, and Deafness
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Review Articles from PubMed

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "ABCD syndrome" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "ABCD syndrome" returned 0 free, full-text research articles. First 0 results:
Development and Validation of a Risk Prediction Model for In-Hospital Mortality Among Patients With Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis-ABCD-10.
Last Updated: Feb 11, 2020

Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a spectrum of severe mucocutaneous drug reaction associated with significant morbidity and mortality. A previously developed SJS/TEN-specific severity-of-illness model (Score of Toxic Epidermal Necrolysis [SCORTEN]) ...

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
Last Updated: Sep 06, 2019

ABCD syndrome is an autosomal recessive syndrome characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut (Hirschsprung disease [HSCR]), and deafness. This phenotype clearly overlaps with the features of the Shah-Waardenburg syndrome, comprising ...

Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome.
Last Updated: Nov 17, 2004

We report on a macrosomic newborn girl with albinism, a black lock at the right temporo-occipital region, and retinal depigmentation. Bilateral deafness was confirmed by brainstem auditory-evoked potentials. In addition, the infant had a severe defect of intestinal innervation. Biopsy ...

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