{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:10:11Z","timestamp":1758161411030,"version":"3.44.0"},"reference-count":21,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 3-year-old boy, firstborn to nonconsanguineous parents, presented with motor development delay and floppiness of bilateral lower limbs since birth. No significant family history presented at time of check-up. He could stand with support, eat with a spoon without spillage, and speak in two-word sentences. There was no history suggestive of cranial nerve impairment. Examination revealed normal head circumference, dry, scaly skin lesions on the trunk, distal weakness with sluggish deep tendon reflexes in bilateral lower limbs, and a high stepping gait. Nerve conduction studies revealed demyelinating polyneuropathy. Brain stem-evoked response audiometry testing revealed auditory neuropathy. Clinical exome sequencing revealed a known pathogenic variant of 3325C\u2009&gt;\u2009T in the SH3TC2 gene suggestive of Charcot-Marie-Tooth disease type 4C and ichthyosis vulgaris with a novel variant of 2218C\u2009&gt;\u2009T in the FLG gene. We have reviewed the available literature for reported associations of Charcot-Marie-Tooth disease type 4C and ichthyosis vulgaris. This is probably the first reported association of Charcot-Marie-Tooth disease type 4C and ichthyosis vulgaris with bilateral hearing loss.<\/jats:p>","DOI":"10.1055\/s-0042-1759780","type":"journal-article","created":{"date-parts":[[2022,12,15]],"date-time":"2022-12-15T21:39:07Z","timestamp":1671140347000},"page":"110-115","source":"Crossref","is-referenced-by-count":0,"title":["Charcot-Marie-Tooth Disease Type 4C and Autosomal Dominant Heterozygous Ichthyosis Vulgaris, with Bilateral Hearing Loss: A Novel Association with Review of Literature"],"prefix":"10.53391","volume":"13","author":[{"given":"Monika","family":"Chhajed","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chaitanya Hospital, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pradeep Kumar","family":"Gunasekaran","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Singanamalla","family":"Bhanudeep","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, KIMS Cuddles Hospital, Hyderabad, Telangana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3153-0736","authenticated-orcid":false,"given":"Lokesh","family":"Saini","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2022,12,15]]},"reference":[{"issue":"05","key":"ref1","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1001\/archneur.1967.00470290106015","article-title":"Charcot-Marie-Tooth disease","volume":"17","author":"L A Brody","year":"1967","journal-title":"Arch Neurol"},{"author":"H Azzedine","key":"ref2"},{"volume-title":"Hereditary and Acquired 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