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]
Porto Biomed JNunes JPL +9 more
europepmc +1 more source
Cholinergic Urticaria Associated with Acquired Hypohidrosis: An Ultrastructural Study
, 2011 Yuko Chinuki +3 more
openalex +1 more source
Efficacy of Stellate Ganglion Block in Cholinergic Urticaria with Acquired Generalized Hypohidrosis
, 2012 Jee Hyun Shin +3 more
openalex +2 more sources
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]
Front GenetSerban CL +5 more
europepmc +1 more source
A successful case of robot-assisted thoracic surgery for apical thoracic schwannoma. [PDF]
Respirol Case Rep, 2023 Oyamatsu H +3 more
europepmc +1 more source
Ectodermal dysplasia: a narrative review of the clinical and biological aspects relevant to oral health. [PDF]
Front PediatrMorandini AC +11 more
europepmc +1 more source
Horner's Syndrome with a Sensation of Warmth Due to Hypohidrosis
, 2013 Manabu Higaki +3 more
openalex +2 more sources
An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia. [PDF]
CureusNardone AJ, Kirwin DS, Lyford WH.
europepmc +1 more source
Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea. [PDF]
Orphanet J Rare DisKim MJ +7 more
europepmc +1 more source