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

Vanessa A. van Rahden, Isabella Rau, Sigrid Fuchs, Friederike Katharina Kosyna, Hiram Larangeira de Almeida, Helen Fryssira, Bertrand Isidor, Anna Jauch, Madeleine Joubert, Augusta M.A. Lachmeijer,

Orphanet Journal of Rare Diseases · 2014 · 33 citations · 38 references

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