• 3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum
• A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features
• Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey
• Cold-Induced Sweating Syndrome Including Crisponi Syndrome
• Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line
• Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family
• Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts
• CRLF1 and CLCF1 in Development, Health and Disease
• Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report
• Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses
• General anesthesia for Crisponi syndrome: case report
• Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual
• Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion
• New macular findings in individuals with biallelic KLHL7 gene mutation
• Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome
• Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa
• Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families