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A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, a...

Published in Clinical Genetics

We report a second patient with intrauterine growth retardation, congenital polycystic kidney disease, infancy‐onset diabetes, microcephaly, and liver fibrosis caused by a homozygous PDIA6 loss‐of‐function variant. Our study further defines the genetic and clinical features of this rare syndromic form of infancy‐onset diabetes.

Functional characterization of a JAG1 5' UTR variant in a patient with clinically observed Alagille syndrome

Published in Clinical Genetics

NKX2.1 run-on mutation associated to familial brain-lung-thyroid syndrome.

Published in Clinical genetics

SMPD3-ALK: A novel ALK fusion gene in lung adenocarcinoma.

Published in Clinical genetics

Indigenous Arabs have an intermediate frequency of a Neanderthal-derived COVID-19 risk haplotype compared with other wor...

Published in Clinical genetics

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.

Published in Clinical genetics

Is BRCA2 involved in early onset colorectal cancer risk?

Published in Clinical genetics

A, Closed symbols indicate patients affected with cancer. Open symbols indicate healthy individuals. The type of cancer and age at presentation are given in brackets. Blue circle represents c.4471_4474del variant and red circle represents the c.9648 + 1G > A. B, RNA was extracted from blood of patient III-3 and his sisters III-1 and III-4. RT-PCR a...

Toni Mochty : Bardet Biedl syndrome "avant la lettre".

Published in Clinical genetics

Long before Georges Louis Bardet and Artur Biedl described their syndrome, "the fattest boy in the world", "a wonder of nature" with at least 4 symptoms and signs of the Bardet-Biedl syndrome was exhibited in different places all over Europe, before his manager got disabled. This article is protected by copyright. All rights reserved. This article ...

Bioinformatic detection of copy number variation in HNF4A causing maturity onset diabetes of the young.

Published in Clinical genetics

Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2.

Published in Clinical genetics