Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.

Autor: López-Sundh AE; Department of Dermatology, Hospital Universitario Marqués de Valdecilla, Santander, Spain., Escribano-Palomino E; Department of Neonatology, Hospital Universitario La Paz, Madrid, Spain., Feito-Rodríguez M; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain., Tenorio J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAMs, Madrid, Spain.; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, Paris, France., Brizzi ME; Department of Pathology, Hospital Universitario La Paz, Madrid, Spain., Krasnovska Zayets K; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain., Servera-Negra G; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain., de Lucas-Laguna R; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jan; Vol. 191 (1), pp. 253-258. Date of Electronic Publication: 2022 Oct 26.