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[Clinical characteristics of four children with 3M syndrome and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jul 10;40(7):795-801. doi: 10.3760/cma.j.cn511374-20220527-00357.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023.
PMID: 37368379
Review.
Chinese.
OBJECTIVE: To analyze the clinical features of 3M syndrome and effect of growth hormone therapy. METHODS: Clinical data of four children diagnosed with 3M syndrome by whole exome sequencing at Hunan Children's Hospital from January 2014 to February 202 …
OBJECTIVE: To analyze the clinical features of 3M syndrome and effect of growth hormone therapy. METHODS: Clinical data of fou …
Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.
Wit JM, Joustra SD, Losekoot M, van Duyvenvoorde HA, de Bruin C.
Wit JM, et al.
Horm Res Paediatr. 2021;94(3-4):81-104. doi: 10.1159/000516407. Epub 2021 Jun 4.
Horm Res Paediatr. 2021.
PMID: 34091447
Free article.
Review.
Regarding genetic causes, there is good evidence of the existence of Kowarski syndrome (due to GH1 variants) but less on the role of GHSR variants. Several genetic causes of (partial) GHI are known (GHR, STAT5B, STAT3, IGF1, IGFALS defects, and Noonan and 3M syndrom …
Regarding genetic causes, there is good evidence of the existence of Kowarski syndrome (due to GH1 variants) but less on the role of …
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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. ...CUL7 is a structural protein central to the formation of an ubiquitin E3 ligase that is known to target in …
3-M syndrome is an autosomal recessive primordial growth disorder characterised by severe postnatal growth restriction caused by muta …
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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 prominent fleshy …
3-M syndrome is an autosomal recessive primordial growth disorder characterized by small birth size and post-natal growth restriction …
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