Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome
- PMID: 18203175
- DOI: 10.1002/ajmg.a.32111
Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome
Similar articles
-
Is this the Coffin-Siris syndrome or the BOD syndrome?Am J Med Genet A. 2009 Mar;149A(3):559-62. doi: 10.1002/ajmg.a.32671. Am J Med Genet A. 2009. PMID: 19215055 No abstract available.
-
Autosomal dominant syndrome resembling Coffin-Siris syndrome.Am J Med Genet A. 2006 Jun 15;140(12):1326-30. doi: 10.1002/ajmg.a.31287. Am J Med Genet A. 2006. PMID: 16691594
-
Premature thelarche in Coffin-Siris syndrome.Am J Med Genet A. 2003 Aug 30;121A(2):174-6. doi: 10.1002/ajmg.a.20158. Am J Med Genet A. 2003. PMID: 12910500 No abstract available.
-
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):290-301. doi: 10.1002/ajmg.c.31408. Epub 2014 Aug 5. Am J Med Genet C Semin Med Genet. 2014. PMID: 25099957 Review.
-
[The Coffin-Siris syndrome. Description of 4 patients and a literature review].Tijdschr Kindergeneeskd. 1993 Feb;61(1):28-33. Tijdschr Kindergeneeskd. 1993. PMID: 8493700 Review. Dutch.
Cited by
-
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Genet Med. 2019. PMID: 30349098 Free PMC article.
-
Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome.Mol Syndromol. 2022 Dec;13(5):425-432. doi: 10.1159/000522532. Epub 2022 Apr 8. Mol Syndromol. 2022. PMID: 36588753 Free PMC article.
-
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.PLoS One. 2020 Dec 3;15(12):e0242358. doi: 10.1371/journal.pone.0242358. eCollection 2020. PLoS One. 2020. PMID: 33270637 Free PMC article.
-
The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.Am J Med Genet A. 2012 Aug;158A(8):1865-76. doi: 10.1002/ajmg.a.35415. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711679 Free PMC article.
-
Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review.Arch Clin Cases. 2022 Sep 26;9(3):121-125. doi: 10.22551/2022.36.0903.10216. eCollection 2022. Arch Clin Cases. 2022. PMID: 36176497 Free PMC article.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Molecular Biology Databases