Patient Perspectives, Unmet Needs and Dilemmas in Reproductive Decision-making for Genodermatoses: A Qualitative Interview Study. [PDF]
Van Veen FCAP +10 more
europepmc +1 more source
Steroid Sulfatase Deficiency: Clinical Manifestations and Psychological Aspects in Light of Current Evidence. [PDF]
Fryze M, Pietrzak A.
europepmc +1 more source
Expanding the Clinical Spectrum of KIDAR Syndrome: A Case of Multisystemic Involvement in a Palestinian Child with AP1B1 Deficiency. [PDF]
Issa K +6 more
europepmc +1 more source
Eye involvement in a series of 94 young patients with congenital ichthyosis: Importance of early ophthalmological referral. [PDF]
Blanco-Calvo N +4 more
europepmc +1 more source
Genodermatosis among the southwestern Saudi population: The pattern and the need for a premarital genetic screening protocol. [PDF]
Alfahaad HA.
europepmc +1 more source
A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings. [PDF]
Zaeem M +6 more
europepmc +1 more source
Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review. [PDF]
Ghosh U +7 more
europepmc +1 more source
Early Neonatal Death in Harlequin Ichthyosis: A Case Report and Literature Review. [PDF]
Alanzi A +5 more
europepmc +1 more source

