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Page 1
Simpson-Golabi-Behmel Syndrome Type 1.
Nisbet AF, Hathaway ER, Kalish JM. Nisbet AF, et al. 2006 Dec 19 [updated 2024 Nov 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2006 Dec 19 [updated 2024 Nov 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301398 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palate abnormal …
CLINICAL CHARACTERISTICS: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal m …
Simpson-Golabi-Behmel syndrome.
Vaisfeld A, Neri G. Vaisfeld A, et al. Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32088. doi: 10.1002/ajmg.c.32088. Epub 2024 May 20. Am J Med Genet C Semin Med Genet. 2024. PMID: 38766979 Review.
The Simpson-Golabi-Behmel syndrome (SGBS; OMIM 312870) is an overgrowth/multiple congenital anomalies/dysplasia condition, inherited as an X-linked semi-dominant trait, with variable expressivity in males and reduced penetrance and expressivity in fema …
The Simpson-Golabi-Behmel syndrome (SGBS; OMIM 312870) is an overgrowth/multiple congenital anomalies/dysplasia …
Simpson-Golabi-Behmel-Syndrome in Dichorionic-Diamniotic Twin Pregnancy.
Reischer T, Laccone F, Kasprian GJ, Yerlikaya-Schatten G. Reischer T, et al. Clin Pract. 2021 Feb 2;11(1):75-80. doi: 10.3390/clinpract11010012. Clin Pract. 2021. PMID: 33540913 Free PMC article. Review.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare x-linked overgrowth syndrome with distinct clinical features, which is difficult to diagnose prenatally. ...
Simpson-Golabi-Behmel syndrome (SGBS) is a rare x-linked overgrowth syndrome with distinct clinical features, wh …
Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report and literature review.
Guo Y, Zhang H, Fan L, Chen J, Zhang X, Yang H, Sun Y. Guo Y, et al. BMC Pregnancy Childbirth. 2022 Jan 17;22(1):42. doi: 10.1186/s12884-021-04309-z. BMC Pregnancy Childbirth. 2022. PMID: 35038998 Free PMC article. Review.
BACKGROUND: Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked overgrowth syndrome. The main clinical manifestations are overgrowth and multiple malformations. ...The genetic testing results of the larger baby indicated of Simpson-Golab …
BACKGROUND: Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked overgrowth syndrome. The main clinical mani …
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.
Vaisfeld A, Pomponi MG, Pietrobono R, Tabolacci E, Neri G. Vaisfeld A, et al. Am J Med Genet A. 2017 Jan;173(1):285-288. doi: 10.1002/ajmg.a.38003. Epub 2016 Oct 14. Am J Med Genet A. 2017. PMID: 27739211 Review.
Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth condition caused by alterations in GPC3 gene, encoding for the cell surface receptor glypican 3, whose clinical manifestations in affected males are well known. ...
Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth condition caused by alterations in GPC3 gene, …
Simpson-Golabi-Behmel syndrome types I and II.
Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, Lapunzina P. Tenorio J, et al. Orphanet J Rare Dis. 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0. Orphanet J Rare Dis. 2014. PMID: 25238977 Free PMC article. Review.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. ...
Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congeni …
CUGC for Simpson-Golabi-Behmel syndrome (SGBS).
Vuillaume ML, Moizard MP, Baumer A, Cottereau E, Brioude F, Rauch A, Toutain A. Vuillaume ML, et al. Eur J Hum Genet. 2019 Apr;27(4):663-668. doi: 10.1038/s41431-019-0339-z. Epub 2019 Jan 25. Eur J Hum Genet. 2019. PMID: 30683921 Free PMC article.
NAME OF THE DISEASE (SYNONYMS): Simpson-Golabi-Behmel syndrome (SGBS). OMIM# OF THE DISEASE: 312870. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS: GPC3. ...
NAME OF THE DISEASE (SYNONYMS): Simpson-Golabi-Behmel syndrome (SGBS). OMIM# OF THE DISEASE: 312870. NAME OF THE …
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis.
Fiandrino G, Arossa A, Ghirardello S, Kalantari S, Rossi C, Bonasoni MP, Cesari S, Rizzuti T, Giorgio E, Bassanese F, Scatigno AL, Meroni A, Melito C, Feltri M, Longo S, Figar TA, Andorno A, Gelli MC, Bertozzi M, Spinillo A, Riccipetitoni G, Valente EM, Paulli M, Sirchia F. Fiandrino G, et al. Placenta. 2022 Aug;126:119-124. doi: 10.1016/j.placenta.2022.06.011. Epub 2022 Jun 30. Placenta. 2022. PMID: 35796063
Germline loss-of-function variants of GPC3 gene are associated with Simpson-Golabi-Behmel syndrome type 1 (SGBS1), a rare recessive X-linked overgrowth disease characterized by typical facial features, congenital abnormalities, and an increased risk of …
Germline loss-of-function variants of GPC3 gene are associated with Simpson-Golabi-Behmel syndrome type 1 (SGBS1 …
Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.
Nisbet AF, Viswanathan A, George AM, Arias P, Klein SD, Nevado J, Parra A, Pascual P, Romeo DJ, Tenorio-Castaño J, Taylor JA, Zackai EH, Lapunzina P, Kalish JM. Nisbet AF, et al. Am J Med Genet A. 2024 Dec;194(12):e63840. doi: 10.1002/ajmg.a.63840. Epub 2024 Aug 19. Am J Med Genet A. 2024. PMID: 39158128 Review.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare congenital overgrowth condition characterized by macrosomia, macroglossia, coarse facial features, and development delays. ...
Simpson-Golabi-Behmel syndrome (SGBS) is a rare congenital overgrowth condition characterized by macrosomia, mac …
Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.
Liu J, Liu Q, Yang S, Ma N, Pang J, Peng Y, Xi H, Jia Z, Luo Y, Jiang M, Teng Y, Yu W, Li Z, Wang H. Liu J, et al. Mol Genet Genomic Med. 2021 Aug;9(8):e1750. doi: 10.1002/mgg3.1750. Epub 2021 Jul 22. Mol Genet Genomic Med. 2021. PMID: 34293831 Free PMC article. Review.
BACKGROUND: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by pre- and postnatal overgrowth and a broad spectrum of anomalies including craniofacial dysmorphism, heart defects, renal, and genital anoma …
BACKGROUND: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by …
353 results