Naegeli-Franceschetti-Jadassohn syndrome: a systematic review of case studies. [PDF]
Shah HH +13 more
europepmc +1 more source
Exosome-Based Proteomic Profiling for Biomarker Discovery in Pediatric Fabry Disease: Insights into Early Diagnosis Monitoring. [PDF]
Lu Z, Xia Y, Wang B, Jiang P, Mao J.
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Omalizumab for cholinergic pruritus in a renal transplant and hemodialysis patient. [PDF]
Shu Q, Zhong X, Zhang L, Wang Q.
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Usefulness of digital infrared thermography video using FLIR T560 in detecting hypothermia associated with complex regional pain syndrome type I: A CARE-compliant case report. [PDF]
Jang Y, Kim S, Chang MC.
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Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia. [PDF]
Kovalskaia VA +18 more
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Novel TP63 Mutation (c.1768C>T, p.Pro590Ser) Expands the Phenotypic Spectrum of TP63-related Disorders: Severe Palmoplantar Hyperkeratosis, Ectodermal Dysplasia, and Cutaneous Squamous Cell Carcinoma. [PDF]
Xu X, Lin Z, Lin Y, Kang H, Xiao C.
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Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat. [PDF]
Guo W, Ji P, Li Y, Zhang Y, Bi J, Xie Y.
europepmc +1 more source
Sparse Hair, Missing Teeth, Dry Skin: An Uncommon but Classic Condition.
Konda D, Reddy M.
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