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Year Number of Results
1993 1
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Page 1
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?
Lonardo F, Lonardo MS, Acquaviva F, Della Monica M, Scarano F, Scarano G. Lonardo F, et al. Clin Genet. 2019 Feb;95(2):253-261. doi: 10.1111/cge.13127. Epub 2018 Jan 25. Clin Genet. 2019. PMID: 28857140 Review.
The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well-described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. ...
The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but cl …
Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.
Bergmann C, Spranger S, Javaher P, Ptok M. Bergmann C, et al. Oral Maxillofac Surg. 2011 Jun;15(2):103-6. doi: 10.1007/s10006-009-0202-4. Oral Maxillofac Surg. 2011. PMID: 20182757 Review.
INTRODUCTION: Genitopatellar syndrome is characterized by absent/hypoplastic patellae, genital and renal abnormalities, dysmorphic facial features, and mental retardation. ...Findings are discussed based on a literature review of the known patients with the genit …
INTRODUCTION: Genitopatellar syndrome is characterized by absent/hypoplastic patellae, genital and renal abnormalities, dysmor …
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. Campeau PM, et al. Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub 2012 Jul 12. Hum Mutat. 2012. PMID: 22715153 Free PMC article. Review.
Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently been shown to be caused by distinct mutations in the histone acetyltransferase KAT6B (a.k.a. ...
Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently bee …
KAT6B Disorders.
Lemire G, Campeau PM, Lee BH. Lemire G, et al. 2012 Dec 13 [updated 2020 Jan 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2012 Dec 13 [updated 2020 Jan 2]. 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: 23236640 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) which are part of a broad phenotypic spectrum with variable expressivity; individuals presenting with a phenotype …
CLINICAL CHARACTERISTICS: KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant …
Genitopatellar Syndrome With a Novel Variant in the KAT6B Gene: Supporting Spectrum Delineation.
Back W, Mierzwa A, Mahfooz N. Back W, et al. Cureus. 2024 Sep 23;16(9):e69989. doi: 10.7759/cureus.69989. eCollection 2024 Sep. Cureus. 2024. PMID: 39445296 Free PMC article.
Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) are rare genetic disorders linked to mutations in the Lysine Acetyltransferase 6B (KAT6B) gene, affecting histone acetylation regulation and developmental processes. ...
Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) are rare genetic disorders linked to mu …
Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea.
Kim BR, Han JH, Shin JE, Park MS, Park KI, Namgung R, Lee HJ, Lee JS, Eun HS. Kim BR, et al. Yonsei Med J. 2019 Apr;60(4):395-398. doi: 10.3349/ymj.2019.60.4.395. Yonsei Med J. 2019. PMID: 30900427 Free PMC article.
Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs, psychomotor retardation and genital and renal anomalies. ...
Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs …
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.
Abdul-Rahman OA, La TH, Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L. Abdul-Rahman OA, et al. Am J Med Genet A. 2006 Jul 15;140(14):1567-72. doi: 10.1002/ajmg.a.31258. Am J Med Genet A. 2006. PMID: 16761293
We report on two additional patients with genitopatellar syndrome and expand the spectrum of anomalies to include radio-ulnar synostosis. ...Although there still does not appear to be an identifiable molecular etiology in genitopatellar syndrome, mutat …
We report on two additional patients with genitopatellar syndrome and expand the spectrum of anomalies to include radio-ulnar …
Genitopatellar syndrome: the first reported case in Japan.
Okano S, Miyamoto A, Fukuda I, Tanaka H, Hata K, Kaname T, Matsubara Y, Makita Y. Okano S, et al. Hum Genome Var. 2018 May 28;5:8. doi: 10.1038/s41439-018-0010-1. eCollection 2018. Hum Genome Var. 2018. PMID: 29899993 Free PMC article.
Genitopatellar syndrome (GPS) is mainly characterized by an absence of patellae, congenital flexion contractures of the lower limbs, psychomotor retardation, and anomalies of the external genitalia and kidneys. ...
Genitopatellar syndrome (GPS) is mainly characterized by an absence of patellae, congenital flexion contractures of the lower …
44 results