Identification and Functional Characterization of Novel and Recurrent NTRK1 Variants in Chinese Families With Congenital Insensitivity to Pain With Anhidrosis: A Combined Clinical, Genetic, and Functional Study. [PDF]
Eur J NeurolRen Y +9 more
europepmc +1 more source
Novel deep intronic variants in <i>NTRK1</i> underlying congenital insensitivity to pain with anhidrosis. [PDF]
Front GenetChen X +5 more
europepmc +1 more source
Asymmetrical anhidrosis with hyperpigmentation in a patient with type 1 diabetes
Journal of Cutaneous Immunology and AllergyMika Fujiwara +5 more
doaj +1 more source
ALPK1-Associated ROSAH Syndrome in a Polish Pedigree. [PDF]
Genes (Basel)Pietras-Baczewska A +4 more
europepmc +1 more source
Case Report: Arthroscopic synovectomy and loose body removal for charcot knee in an adolescent with congenital insensitivity to pain with anhidrosis. [PDF]
Front SurgXiong Q, Huang L, Hu Y, Fu W.
europepmc +1 more source
Laser therapy: palliative care for the Harlequin syndrome? [PDF]
Einstein (Sao Paulo)França FOS +4 more
europepmc +1 more source
Persistent Horner Syndrome Following Benign Gynaecological Surgery: A Case Report and Review of the Literature. [PDF]
CureusNorton MC, Kuntal S.
europepmc +1 more source
Irreversible Ocular and Systemic Damage in ROSAH Syndrome. [PDF]
Ophthalmol TherFabiani C +11 more
europepmc +1 more source
A multigenerational fabry disease case caused by a <i>de novo</i> GLA mutation: Diagnostic delay, phenotypic variability, and the impact of early detection. [PDF]
J Family Med Prim CareTopsakal S +5 more
europepmc +1 more source
Correction to "Additional Evidence Fails to Associate Variation in KCNE4 With Equine Anhidrosis". [PDF]
Anim Geneteuropepmc +1 more source