Renal, cardiac, and neurologic disease in a patient with Fabry disease, hemizygous for the c.639+5G>C intronic variant in the galactosidase alpha (<i>GLA</i>) gene. [PDF]
Nunes JPL+9 more
europepmc +1 more source
Cryo-ablation management of atrial fibrillation in Fabry disease without agalsidase alpha: a case report. [PDF]
Li Y, Huang B, Luo S.
europepmc +1 more source
Case Report: A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation, and skeletal implications due to an ultra-rare <i>de novo</i> 5q14.3q15 copy number gain. [PDF]
Serban CL+5 more
europepmc +1 more source
An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia. [PDF]
Nardone AJ, Kirwin DS, Lyford WH.
europepmc +1 more source
Ectodermal dysplasia: a narrative review of the clinical and biological aspects relevant to oral health. [PDF]
Morandini AC+11 more
europepmc +1 more source
Porous polyethylene in reconstructive head and neck surgery [PDF]
Berghaus, Alexander
core +1 more source
Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea. [PDF]
Kim MJ+7 more
europepmc +1 more source
A Case of Acquired Idiopathic Generalized Anhidrosis with Anti-mucin 7 Seropositivity
Marie Kitamura+4 more
doaj +1 more source