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Combined Factor V and VIII Deficiency with LMAN1 Mutation: A Report of 3 Saudi Siblings.

The American journal of case reports - 18 Sept 2022

Alsheikh Shahad, Alghamdi Rizam, Alqatari Ahlam, Alfareed Abdullah, AlSaleh Mona

Abstract excerpt

BACKGROUND Combined factor V and factor VIII deficiency (F5F8D) is a rare bleeding disorder with an incidence of 1: 1 000 000. The identified mutations were observed in LMAN1 and MCFD2 genes. This case report presents the cases of 3 Saudi siblings with the genetic mutation of LMAN1 causing F5F8D, and highlights the challenges in diagnosis and treatment. CASE REPORT Patient X, a 7-year-old boy, was misdiagnosed...

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Identifiers

PMID: 36116005
DOI: 10.12659/AJCR.937312
PMCID: PMC9495817

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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