{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:23:59Z","timestamp":1760149439421,"version":"build-2065373602"},"reference-count":18,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2023,8,2]],"date-time":"2023-08-02T00:00:00Z","timestamp":1690934400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Science and Higher Education of the Russian Federation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>We present a case of a combination of two rare hereditary disorders: obesity, adrenal insufficiency and red hair syndrome (OBAIRH) and Duchenne muscular dystrophy (DMD) in a boy. Both diseases were diagnosed during the first year of life. OBAIRH was suggested based on the ethnicity and family history of the patient, while DMD was based on an extreme increase in transaminase and CK (creatine kinase) levels during a biochemical analysis of his blood. The OBAIRH syndrome was caused by a pathogenic homozygous variant in the regulatory region of the POMC gene (NM_001035256.3): c.-71+1G&gt;A, while DMD was caused by the de novo deletion of exons 38\u201345 of the DMD (NM_004006.3) gene (NC_000023.10:g.(?_32380941)(31950285_?)del).<\/jats:p>","DOI":"10.3390\/ijms241512357","type":"journal-article","created":{"date-parts":[[2023,8,2]],"date-time":"2023-08-02T11:04:38Z","timestamp":1690974278000},"page":"12357","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy"],"prefix":"10.3390","volume":"24","author":[{"given":"Olga","family":"Shchagina","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera","family":"Kurilova","sequence":"additional","affiliation":[{"name":"State Budgetary Institution of Health of the Perm Region \u201cRegional Children\u2019s Clinical Hospital\u201d, Perm 614066, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Zinina","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vyacheslav","family":"Porubov","sequence":"additional","affiliation":[{"name":"State Budgetary Institution of Health of the Perm Region \u201cRegional Children\u2019s Clinical Hospital\u201d, Perm 614066, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svetlana","family":"Efishova","sequence":"additional","affiliation":[{"name":"State Budgetary Institution of Health of the Perm Region \u201cRegional Children\u2019s Clinical Hospital\u201d, Perm 614066, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksander","family":"Polyakov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Moscow 115522, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,2]]},"reference":[{"key":"ref_1","first-page":"190","article-title":"Components of Ethnic Identity of Tatars of Perm Territory (According to Spontaneous Texts)","volume":"6","author":"Khudiakova","year":"2020","journal-title":"Compon. 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