Poorly described phenotypes add to the misfortune of rare diseases

An often overlooked problem in the characterization of rare diseases is the contingent and evolving nature of accepted phenotypes. In the era of next-generation sequencing and genotype-first approaches to patient care, we illustrate the pitfalls of superficial phenotype descriptions via a historic o...

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Vydáno v:	European journal of medical genetics Ročník 77; s. 105034
Hlavní autoři:	A, Fabre, K, Aouchiche, R, Reynaud
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Netherlands Elsevier Masson SAS 01.10.2025 Elsevier
Témata:	Alagille syndrome Alagille Syndrome - diagnosis Alagille Syndrome - genetics Alagille Syndrome - pathology Case report Genetics Genotype-first approach Humans Life Sciences Phenotype Rare disease Rare Diseases - diagnosis Rare Diseases - genetics Rare Diseases - pathology Phenotype Case report Genotype-first approach Alagille syndrome Rare disease
ISSN:	1769-7212, 1878-0849, 1878-0849
On-line přístup:	Získat plný text
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Shrnutí:	An often overlooked problem in the characterization of rare diseases is the contingent and evolving nature of accepted phenotypes. In the era of next-generation sequencing and genotype-first approaches to patient care, we illustrate the pitfalls of superficial phenotype descriptions via a historic overview of Alagille syndrome. These reflections lead us to a series of recommendations to improve phenotype descriptions, namely to encourage and standardize case reports and create case databases including follow-up data.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1769-7212 1878-0849 1878-0849
DOI:	10.1016/j.ejmg.2025.105034