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About 143 results

ALLMedicine™ Simpson-Golabi-Behmel Syndrome Center

Research & Reviews  57 results

Hepatoblastoma in molecularly defined, congenital diseases.
https://doi.org/10.1002/ajmg.a.62767
American Journal of Medical Genetics. Part A; Nussbaumer G, Benesch M

Apr 29th, 2022 - Beckwith-Wiedemann spectrum, Simpson-Golabi-Behmel syndrome, familial adenomatous polyposis and trisomy 18 are the most common congenital conditions associated with an increased incidence of hepatoblastoma (HB). In patients with these genetic diso...

A prenatal case of Simpson-Golabi-Behmel syndrome type 1 with a 0.26-Mb deletion fragme...
https://doi.org/10.1097/MD.0000000000029222
Medicine Sha J, Tan F et. al.

Apr 29th, 2022 - The purpose of this report was to explore how to manage the fetus of Simpson-Golabi-Behmel syndrome type 1 (SGBS1) and to provide a definite diagnosis to guide the following genetic counseling for the pregnancy. A 24-year-old women, gravida 1, par...

Simpson-Golabi-Behmel syndrome in one of the Dichorionic-diamniotic twin: a case report...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8762945
BMC Pregnancy and Childbirth; Guo Y, Zhang H et. al.

Jan 19th, 2022 - Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked overgrowth syndrome. The main clinical manifestations are overgrowth and multiple malformations. A 38-year-old Chinese woman was pregnant with dichorionic-diamniotic (DCDA) twins after in-vi...

Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletio...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404223
Molecular Genetics & Genomic Medicine; Liu J, Liu Q et. al.

Jul 23rd, 2021 - 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 anomalies. D...

Simpson-Golabi-Behmel syndrome: One family, same mutation, different outcome.
https://doi.org/10.1002/ajmg.a.62263
American Journal of Medical Genetics. Part A; Fernandes C, Paúl A et. al.

May 19th, 2021 - Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked condition characterized by pre and postnatal overgrowth with visceral and skeletal abnormalities. The syndrome is caused mainly by mutations in the X-linked gene GPC3. Clinical presentation ...

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