Open access
Sep 2026
This genetic association study provides new data on a prior case report of persistent neonatal pemphigus, reclassifying it as genetic rather than autoimmune in origin.
E. Avitan-Hersh, Xu-Ming Mao, F. Solimani et al.
· JAMA dermatology · 0 citations
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Open access
Sep 2026
Congenital afibrinogenemia is an extremely rare autosomal recessive bleeding disorder with an estimated incidence of one in one million, caused by mutations in the fibrinogen‐encoding genes.
Liang-Liang Liu, De-Sheng Yuan, Hua-Xing Zhao et al.
· Birth Defects Research · 0 citations
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Open access
Sep 2026
Sitosterolemia (STSL) is a rare autosomal recessive disorder caused by mutations in ABCG5 or ABCG8, characterized by hemolytic anemia, xanthomas, and atherosclerosis. Nephronophthisis (NPHP), another autosomal recessive disorder, is characterized by its devastating progression toward renal failure.
Dan Ding, Hong-Mei Wu, Fei Zhao et al.
· Molecular Genetics & Genomic... · 0 citations
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Open access
Aug 2026
[This corrects the article DOI: 10.3389/fped.2026.1909252.].
Ya-Qin Zhang, Sooyeon Lee, Justin P. Annes et al.
· Frontiers in Pediatrics · 0 citations
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Oct 2026
. A case report of Xp21 contiguous gene deletion syndrome with adrenal crisis and sensorineural hearing loss: clinical highlights
Rungroj Thangpong, Samkhwan Thongsukkaeo, Kulpatra Paisansukanant et al.
· Journal of Pediatric Endocri... · 0 citations
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Case report
Open access
Sep 2026
Treacher Collins syndrome (TCS) is a congenital craniofacial disorder characterized by malar and mandibular hypoplasia, downward‐slanting palpebral fissures, and conductive hearing loss. Pathogenic variants in TCOF1 account for most cases, with POLR1D, POLR1C, and POLR1B also implicated.
Fei-Yang Fan, Ying Chen, Tian-Yu Zhang et al.
· Molecular Genetics & Genomic... · 0 citations
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