" /> Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3 - CISMeF





Preferred Label : Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3;

Symbol : PFBMFT3;

CISMeF acronym : PFBMFT3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the regulator of telomere elongation helicase 1 gene (RTEL1, 608833.0014);

Laboratory abnormalities : Decreased telomere length in lymphocytes;

Prefixed ID : #616373;

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31/07/2025


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