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De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism
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Homozygous null TBX4 mutations lead to posterior amelia with pelvic and pulmonary hypoplasia
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IRF2BPL is associated with neurological phenotypes
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Bi-allelic loss-of-function mutations in the NPR-C receptor result in enhanced growth and connective tissue abnormalities
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- Journal Article
- A1
- open access
Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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- Journal Article
- A1
- open access
ACTB loss-of-function mutations result in a pleiotropic developmental disorder
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Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis
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- Journal Article
- A1
- open access
Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia
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- Journal Article
- A1
- open access
Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination