DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
van Rahden VA, Rau I, Fuchs S. , et al.
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.
Orphanet J Rare Dis 2014;
9: 53
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