Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM23_ESM.xlsx › Sheet1
Ophthalmo-acromelic syndrome in an infant.
Ürel-Demir G et al.
European Journal of Medical Genetics, 2019
Mutations in ALDH1A3 cause microphthalmia.
Aldahmesh MA et al.
Clinical Genetics, 2013
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