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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities"
Page 1
Chromosome 15q24 microdeletion syndrome.
Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2.
Orphanet J Rare Dis. 2012.
PMID: 22216833
Free PMC article.
Review.
Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior problems, recurrent infections, and eye problems. Other less frequent findings include hearing loss, growth hormone deficiency, hernias, and …
Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior p …
A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.
Chen J, Xia Z, Zhou Y, Ma X, Wang X, Guo Q.
Chen J, et al.
BMC Med Genomics. 2021 Mar 2;14(1):68. doi: 10.1186/s12920-021-00920-3.
BMC Med Genomics. 2021.
PMID: 33653342
Free PMC article.
Whole-exome sequencing and Sanger sequencing were used to detect and confirm the variant associated with KBG in this patient, respectively. The pathogenicity of the variant was further predicted by several in silico prediction tools. The patient was diagnosed as KBG …
Whole-exome sequencing and Sanger sequencing were used to detect and confirm the variant associated with KBG in this patient, respectively. …
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A fourth case of Feingold syndrome type 2: psychiatric presentation and management.
Ganjavi H, Siu VM, Speevak M, MacDonald PA.
Ganjavi H, et al.
BMJ Case Rep. 2014 Nov 12;2014:bcr2014207501. doi: 10.1136/bcr-2014-207501.
BMJ Case Rep. 2014.
PMID: 25391829
Free PMC article.
Review.
Feingold syndrome (FGLDS1) is an autosomal dominant disorder caused by mutations in the MYCN oncogene on the short arm of chromosome 2 (2p24.1). ...In 2011, individuals sharing the skeletal abnormalities of FGLDS1 but lacking mutations in MYCN, were found to …
Feingold syndrome (FGLDS1) is an autosomal dominant disorder caused by mutations in the MYCN oncogene on the short arm of chromosome …
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Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.
Herenger Y, Stoetzel C, Schaefer E, Scheidecker S, Manière MC, Pelletier V, Alembik Y, Christmann D, Clavert JM, Terzic J, Fischbach M, De Saint Martin A, Dollfus H.
Herenger Y, et al.
Eur J Med Genet. 2015 Sep;58(9):479-87. doi: 10.1016/j.ejmg.2015.07.004. Epub 2015 Jul 15.
Eur J Med Genet. 2015.
PMID: 26188272
Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities. T …
Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hyp …
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