Cochlear implantation in syndromic patients: difficulties and lessons learnt. [PDF]
Eur Arch OtorhinolaryngolSaleeb MF +4 more
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AUTS2 variant in a child diagnosed with autism spectrum disorder and intellectual disability disorder, a case report. [PDF]
Indian J PsychiatryVardhan A +5 more
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HARLEQUINN ICTHYOSIS: A CASE BASED ON GENETIC SKIN DISORDER
Harlequin Ichthyosis (HI) is an exceptionally rare and severe genetic skin disorder that manifests at birth. This condition arises from a mutation in the ABCA12 gene, which is crucial for the formation of the skin's protective barrier. When this gene malfunctions, skin cells fail to shed properly, resulting in the emergence of thick, hard scales that ...
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Terra Firma-Forme Dermatosis-More Than Just Dirty. [PDF]
Indian Dermatol Online JMohta A +4 more
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Topical Isotretinoin: Current Applications, Challenges, and Future Directions. [PDF]
CureusBouchelkia I, Tyring S.
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Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis. [PDF]
Front Genet, 2022 Liang B +7 more
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Clinical Outcomes of Upper Eyelid Blepharoplasty. [PDF]
Pak J Med SciSameen M, Rebecca.
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Icthyosis Uteri with in Situ CarcinomaReport of 2 Cases
Annals of Pathology and Laboratory Medicine, 2018 Almas Iqbal Pathan +2 more
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A Case of Myxedema Coma in a 48-Year-Old Female Presenting With Altered Mental Status Post-trauma. [PDF]
CureusGurumoorthy RB, Gonzales L.
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