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

V.A. van Rahden, I. Rau, S. Fuchs, F.K. Kosyna, H.L. de Almeida, H. Fryssira, B. Isidor, A. Jauch, M. Joubert, A.M.A. Lachmeijer, C. Zweier, U. Moog, K. Kutsche

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Article number53
JournalOrphanet Journal of Rare Diseases
Publication statusPublished - 2014

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