Associated Papers
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Chesneau B et al.
Clinical Genetics, 2022
Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.
Indrieri A et al.
Genes, 2021
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
van Rahden VA et al.
American Journal of Human Genetics, 2015
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
van Rahden VA et al.
Orphanet Journal of Rare Diseases, 2014
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
Wimplinger I et al.
American Journal of Human Genetics, 2006
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