Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis

Abstract Background We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative syndrome including distichiasis. We used different genetic tools to identify causative pathogenic mutations and/or copy number...

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Hlavní autoři:	Lauriane Le Collen, Brigitte Delemer, Marta Spodenkiewicz, Pascale Cornillet Lefebvre, Emmanuelle Durand, Emmanuel Vaillant, Alaa Badreddine, Mehdi Derhourhi, Tarik Ait Mouhoub, Guillaume Jouret, Pauline Juttet, Pierre François Souchon, Martine Vaxillaire, Philippe Froguel, Amélie Bonnefond, Martine Doco Fenzy
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2022-02-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Childhood onset diabetes Genotype–phenotype relations Genetic disorders Genetic analysis Intellectual disability Wolfram syndrome
On-line přístup:	https://doi.org/10.1186/s13023-022-02248-2
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