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PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome.
Yeowell HN, Steinmann B. Yeowell HN, et al. 2000 Feb 2 [updated 2018 Oct 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Feb 2 [updated 2018 Oct 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301635 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of PLOD1-related kEDS is established in a proband with typical clinical findings and biallelic pathogenic (or likely pathogenic) variants in PLOD1 identified by molecular genetic testing. ...GENETIC COUNSELING: PLOD1-related k …
DIAGNOSIS/TESTING: The diagnosis of PLOD1-related kEDS is established in a proband with typical clinical findings and biallelic patho …
Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.
Anum EA, Hill LD, Pandya A, Strauss JF 3rd. Anum EA, et al. Placenta. 2009 Mar;30(3):207-15. doi: 10.1016/j.placenta.2008.12.007. Epub 2009 Jan 18. Placenta. 2009. PMID: 19152976 Free PMC article. Review.
The responsible genes include COL5A1, COL5A2, COL3A1, COL1A1, COL1A2, TNXB, PLOD1, ADAMTS2, CRTAP, LEPRE1 and ZMPSTE24. Marfan syndrome, caused by FBN1 mutations, and polymorphisms in the COL1A1 and TGFB1 genes have been associated with cervical incompetence. ...
The responsible genes include COL5A1, COL5A2, COL3A1, COL1A1, COL1A2, TNXB, PLOD1, ADAMTS2, CRTAP, LEPRE1 and ZMPSTE24. Marfan syndro …
Kyphoscolitic Type of Ehlers-Danlos Syndrome with Prenatal Stroke.
Zahed-Cheikh M, Tosello B, Coze S, Gire C. Zahed-Cheikh M, et al. Indian Pediatr. 2017 Jun 15;54(6):495-497. doi: 10.1007/s13312-017-1054-x. Indian Pediatr. 2017. PMID: 28667723 Free article.
CASE CHARACTERISTICS: We report two children with perinatal stroke; accompanied by neonatal joint hypermobility, hypotonia; and early development of kyphoscoliosis. OUTCOME: Molecular analysis revealed a PLOD1 gene mutation. Our definitive diagnosis was a EDS VIA. MESSAGE: …
CASE CHARACTERISTICS: We report two children with perinatal stroke; accompanied by neonatal joint hypermobility, hypotonia; and early develo …