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3-M syndrome.
Flannery DB. Flannery DB. Am J Med Genet. 1989 Feb;32(2):252-4. doi: 10.1002/ajmg.1320320220. Am J Med Genet. 1989. PMID: 2929663 No abstract available.
Three M Syndrome.
Irving M, Holder-Espinasse M. Irving M, et al. 2002 Mar 25 [updated 2019 Feb 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Mar 25 [updated 2019 Feb 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301654 Free Books & Documents. Review.
3-M Syndrome: A Local Case Report.
HabibUllah H, Al-Baradie R, Bashir S. HabibUllah H, et al. Am J Case Rep. 2019 Jan 9;20:36-38. doi: 10.12659/AJCR.912736. Am J Case Rep. 2019. PMID: 30622233 Free PMC article.
BACKGROUND 3-M syndrome is an uncommon disease characterized by severe growth retardation, dysmorphic features, and skeletal abnormalities. ...CONCLUSIONS The aim of the case report is to add this new patient to the literature on 3-M syndrome …
BACKGROUND 3-M syndrome is an uncommon disease characterized by severe growth retardation, dysmorphic features, and ske …
Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.
Clayton PE, Hanson D, Magee L, Murray PG, Saunders E, Abu-Amero SN, Moore GE, Black GC. Clayton PE, et al. Clin Endocrinol (Oxf). 2012 Sep;77(3):335-42. doi: 10.1111/j.1365-2265.2012.04428.x. Clin Endocrinol (Oxf). 2012. PMID: 22624670 Review.
3-M syndrome is an autosomal recessive primordial growth disorder characterized by small birth size and post-natal growth restriction associated with a spectrum of minor anomalies (including a triangular-shaped face, flat cheeks, full lips, short chest and pr …
3-M syndrome is an autosomal recessive primordial growth disorder characterized by small birth size and post-natal grow …
The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway.
Hanson D, Murray PG, Black GC, Clayton PE. Hanson D, et al. Horm Res Paediatr. 2011;76(6):369-78. doi: 10.1159/000334392. Epub 2011 Nov 29. Horm Res Paediatr. 2011. PMID: 22156540 Free article. Review.
3-M syndrome is an autosomal recessive primordial growth disorder characterised by severe postnatal growth restriction caused by mutations in CUL7, OBSL1 or CCDC8. ...Future work should be directed to investigating the function of the 3-M syn …
3-M syndrome is an autosomal recessive primordial growth disorder characterised by severe postnatal growth restriction …
The 3-M syndrome.
Winter RM, Baraitser M, Grant DB, Preece MA, Hall CM. Winter RM, et al. J Med Genet. 1984 Apr;21(2):124-8. doi: 10.1136/jmg.21.2.124. J Med Genet. 1984. PMID: 6716411 Free PMC article.
Five patients from four families, including two male sibs, are reported with clinical and radiological features of the 3-M syndrome....
Five patients from four families, including two male sibs, are reported with clinical and radiological features of the 3-M …
3-M syndrome: a report of three Egyptian cases with review of the literature.
Temtamy SA, Aglan MS, Ashour AM, Ramzy MI, Hosny LA, Mostafa MI. Temtamy SA, et al. Clin Dysmorphol. 2006 Apr;15(2):55-64. doi: 10.1097/01.mcd.0000198926.01706.33. Clin Dysmorphol. 2006. PMID: 16531729 Review.
The 3-M syndrome is a rare autosomal recessive disorder. It is characterized by prenatal and postnatal growth retardation associated with characteristic features. ...Recent identification of a gene mutated in some cases of 3-M syndrome wi …
The 3-M syndrome is a rare autosomal recessive disorder. It is characterized by prenatal and postnatal growth retardati …
3-M syndrome: a growth disorder associated with IGF2 silencing.
Murray PG, Hanson D, Coulson T, Stevens A, Whatmore A, Poole RL, Mackay DJ, Black GC, Clayton PE. Murray PG, et al. Endocr Connect. 2013 Nov 11;2(4):225-35. doi: 10.1530/EC-13-0065. Print 2013. Endocr Connect. 2013. PMID: 24148222 Free PMC article.
The aim of this study was to identify novel pathways involved in the growth impairment in 3-M syndrome. RNA was extracted from fibroblast cell lines derived from four 3-M syndrome patients and three control subjects, hybridised to Affymet …
The aim of this study was to identify novel pathways involved in the growth impairment in 3-M syndrome. RNA was extract …
3-M syndrome: description of six new patients with review of the literature.
van der Wal G, Otten BJ, Brunner HG, van der Burgt I. van der Wal G, et al. Clin Dysmorphol. 2001 Oct;10(4):241-52. doi: 10.1097/00019605-200110000-00002. Clin Dysmorphol. 2001. PMID: 11665997 Review.
3-M syndrome combines pre- and postnatal growth retardation and dysmorphic facial features with autosomal recessive inheritance. ...Final height is ISD less in 3-M syndrome than in SRS. Growth hormone treatment significantly increased fin …
3-M syndrome combines pre- and postnatal growth retardation and dysmorphic facial features with autosomal recessive inh …
3-M syndrome - a primordial short stature disorder with novel CUL7 mutation in two Indian patients.
Akella RRD. Akella RRD. J Pediatr Endocrinol Metab. 2021 Oct 22;35(3):399-403. doi: 10.1515/jpem-2021-0412. Print 2022 Mar 28. J Pediatr Endocrinol Metab. 2021. PMID: 34674409
CASE PRESENTATION: Two children with suspected skeletal dysplasia and short stature were evaluated. CONCLUSIONS: The 3-M syndrome is a primordial growth disorder manifesting severe postnatal growth restriction, skeletal anomalies and prominent fleshy heels. T …
CASE PRESENTATION: Two children with suspected skeletal dysplasia and short stature were evaluated. CONCLUSIONS: The 3-M sy …
87 results