{{Rsnum
|rsid=137854889
|Chromosome=1
|Orientation=plus
|geno1=(-;-)
|geno2=(-;T)
|geno3=(T;T)
|Gene=ZMPSTE24
|position=40290879
|Gene_s=ZMPSTE24
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=606480
|variant=0001
|rsnum=137854889
}}{{ClinVar
|rsid=137854889
|Reversed=0
|FwdALT=T
|REF=G
|ALT=GT
|RSPOS=40290870
|CHROM=1
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050168001205000002110200
|GENEINFO=ZMPSTE24:10269
|GENE_NAME=ZMPSTE24
|GENE_ID=10269
|WGT=1
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.40290879dupT
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_005857.4:c.1085_1086insT; 606480.0001
|CLNSIG=5
|CLNCUI=C1837756; C0406585
|CLNDBN=Mandibuloacral dysplasia with type B lipodystrophy; Lethal tight skin contracture syndrome
|Disease=Mandibuloacral dysplasia with type B lipodystrophy; Lethal tight skin contracture syndrome
|CLNACC=RCV000004492.1; RCV000023547.1
|Tags=PM;PMC;SLO;NSF;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet; MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C1837756:608612:ORPHA2457; C0406585:275210:ORPHA1662:400128006
|CLNORIGIN=1
}}{{PMID Auto
|PMID=15317753
|Title=Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
}}

{{PMID Auto
|PMID=15843403
|Title=Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
}}{{PMID Auto
|PMID=12913070
|Title=Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
}}

{{PMID Auto
|PMID=15937076
|Title=Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.
|OA=1
}}

{{PMID Auto
|PMID=16297189
|Title=Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.
|OA=1
}}

{{PMID Auto
|PMID=17152860
|Title=Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.
}}

{{PMID Auto
|PMID=19020898
|Title=Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.
}}

{{PMID Auto
|PMID=19139791
|Title=Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family.
}}

{{PMID Auto
|PMID=20034068
|Title=Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption.
}}

{{PMID Auto
|PMID=21108632
|Title=Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.
|OA=1
}}

{{PMID Auto
|PMID=21121943
|Title=Restrictive dermopathy in a Turkish newborn.
}}