{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T18:02:42Z","timestamp":1757700162043},"reference-count":0,"publisher":"Cold Spring Harbor Laboratory","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"abstract":"<jats:p>Microvillus inclusion disease (MVID, MIM\u266f 251850), also known as congenital microvil-lus atrophy, was first described by Davidson et al. in 1978. It is a rare au-tosomal recessive disease that presents with an intractable life-threatening watery diarrhea either within the first days of life (early-onset form) or at several months of life (late-onset form) . The hallmarks of MVID are a lack of microvilli on the surface of villous enterocytes, occurrence of microvillous inclusions and the cytoplasmic accumulation of periodic acid-schiff-positive vesicles. In 2008, Muller et al showed that mutations in MYO5B (MIM \u266f 606540), en-coding the unconventional type Vb myosin motor protein, were associated with MVID in an ex-tended Turkish kindred. Since then, more mutations were described in different populations . In this report we describe a novel mutation in two unrelated Syrian patients with MVID.<\/jats:p>","DOI":"10.1101\/mcs.a006103","type":"journal-article","created":{"date-parts":[[2021,11,23]],"date-time":"2021-11-23T17:46:20Z","timestamp":1637689580000},"page":"mcs.a006103","source":"Crossref","is-referenced-by-count":1,"title":["Novel MYO5B Mutation in Microvillous Inclusion Disease of Syrian Ancestry"],"prefix":"10.1101","author":[{"given":"Kamal","family":"Hassan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amal","family":"Robay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aljazi","family":"Al-Maraghi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuha","family":"Nimeri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asmaa","family":"Azzam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alya","family":"Al Shakaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eman","family":"Hamid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald","family":"Crystal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Fakhro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2021,11,23]]},"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a006103","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,25]],"date-time":"2021-11-25T14:26:45Z","timestamp":1637850405000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a006103"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,23]]},"references-count":0,"alternative-id":["10.1101\/mcs.a006103"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a006103","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"value":"2373-2865","type":"print"},{"value":"2373-2873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,23]]}}}