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Additionally, the infant had a tall stature; long, slender fingers and toes; and facial dysmorphism characterised by a long, narrow face with increased interpalpebral distance. The condition deteriorated rapidly, and unfortunately, death occurred before a definitive diagnosis could be established. Tandem mass spectrometry suggested low methionine and clinical exome sequencing identified a nonsense mutation in the <jats:italic>MTHFR<\/jats:italic> gene.<\/jats:p>","DOI":"10.1136\/bcr-2024-261755","type":"journal-article","created":{"date-parts":[[2024,10,2]],"date-time":"2024-10-02T07:45:17Z","timestamp":1727855117000},"page":"e261755","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Novel methylenetetrahydrofolate reductase (<i>MTHFR<\/i>) mutation presenting with neonatal encephalopathy, hair loss and marfanoid features"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-4330-8579","authenticated-orcid":false,"given":"Vimesh","family":"Parmar","sequence":"first","affiliation":[{"name":"Neonatology, All India Institute of Medical Science, Bhopal, MP, India"},{"name":"Neonatology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arunkumarendu","family":"Singh","sequence":"additional","affiliation":[{"name":"Neonatology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rinkal","family":"Madhudiya","sequence":"additional","affiliation":[{"name":"Department of Dermatology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,10,2]]},"reference":[{"key":"2025082803230722000_17.10.e261755.1","doi-asserted-by":"crossref","unstructured":"Rosenblatt DS , et al . 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