Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference42 articles.
1. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia;Agarwal;Hum Mol Genet,2003
2. Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency;Agarwal;J Investig Med,2006
3. Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation;Agarwal;J Clin Endocrinol Metab,2008
4. Official positions of the International Society for Clinical Densitometry and executive summary of the 2007 ISCD Position Development Conference;Baim;J Clin Densitom,2008
5. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090);Cao;J Hum Genet,2003
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2. Syndromes with Premature Ageing;Rook's Textbook of Dermatology;2024-02-20
3. Genetic Disorders of Collagen, Elastin and Dermal Matrix;Rook's Textbook of Dermatology;2024-02-20
4. The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B;Nucleus;2023-12-05
5. An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon;Gene;2022-07
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