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Academic Journal

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.

Subjects: HCCS; Microphthalmia; X-linked

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://inserm.hal.science/inserm-00981854 ; Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.53. ⟨10.1186/1750-1172-9-53⟩.

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