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Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.
Seto MT, Bertoli-Avella AM, Cheung KW, Chan KY, Yeung KS, Fung JL, Beetz C, Bauer P, Luk HM, Lo IF, Lee CP, Chung BH, Kan AS. Seto MT, et al. Am J Med Genet A. 2021 Feb;185(2):384-389. doi: 10.1002/ajmg.a.61964. Epub 2020 Nov 9. Am J Med Genet A. 2021. PMID: 33166031
Schuurs-Hoeijmakers syndrome (SHS) is a rare syndrome involving a de novo variant in the PACS1 gene on chromosome 11q13. ...
Schuurs-Hoeijmakers syndrome (SHS) is a rare syndrome involving a de novo variant in the PACS1 gene on chromosome 11q13 …
PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome.
Ohkawa T, Nishimura A, Kosaki K, Aoki-Nogami Y, Tomizawa D, Kashimada K, Morio T, Kato M, Mizutani S, Takagi M. Ohkawa T, et al. J Hum Genet. 2022 Jan;67(1):51-54. doi: 10.1038/s10038-021-00965-3. Epub 2021 Aug 2. J Hum Genet. 2022. PMID: 34341476
Whole exome sequencing analysis of a germline sample identified a PACS1 c.607 C>T de novo variant and the patient was diagnosed with Schuurs-Hoeijmakers syndrome (SHS). SHS is a rare disease characterized by intellectual disability and dysmorphic facial fe …
Whole exome sequencing analysis of a germline sample identified a PACS1 c.607 C>T de novo variant and the patient was diagnosed with S …
Schuurs-Hoeijmakers syndrome in two patients from Japan.
Hoshino Y, Enokizono T, Imagawa K, Tanaka R, Suzuki H, Fukushima H, Arai J, Sumazaki R, Uehara T, Takenouchi T, Kosaki K. Hoshino Y, et al. Am J Med Genet A. 2019 Mar;179(3):341-343. doi: 10.1002/ajmg.a.9. Epub 2018 Dec 27. Am J Med Genet A. 2019. PMID: 30588754
Schuurs-Hoeijmakers syndrome is a rare disease characterized by intellectual disability and dysmorphic facial features among various physical abnormalities due to PACS1 mutation. ...As the majority of patients with PACS1 mutation present constipation, underdi …
Schuurs-Hoeijmakers syndrome is a rare disease characterized by intellectual disability and dysmorphic facial features …
Intractable startle epilepsy in Schuurs - Hoeijmakers syndrome.
Ohta K, Okanishi T, Kanai S, Okazaki T, Fujimoto A, Maegaki Y. Ohta K, et al. Epileptic Disord. 2022 Jun 1;24(3):606-608. doi: 10.1684/epd.2022.1415. Epileptic Disord. 2022. PMID: 35770753 English. No abstract available.
Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.
Abbassi M, Bourmtane A, Sayel H, El Mouhi H, Jalte M, Elasri YA, Askander O, El Fahime E, Bouguenouch L. Abbassi M, et al. Mol Biol Rep. 2023 Nov;50(11):9121-9128. doi: 10.1007/s11033-023-08803-9. Epub 2023 Sep 25. Mol Biol Rep. 2023. PMID: 37747683
BACKGROUND: Schuurs-Hoeijmakers syndrome, an autosomal dominant neurodevelopmental genetic disorder, is a rare cause of intellectual disability (ID) affecting approximately 1 to 3% of all over the world. ...The rarity of this variant in population databases f …
BACKGROUND: Schuurs-Hoeijmakers syndrome, an autosomal dominant neurodevelopmental genetic disorder, is a rare cause of …
A case report of retinal dystrophy in patients with PACS1 syndrome.
Brown JE, Aldred B, Boulter T, Sullivan R, Ver Hoeve J, Pattnaik BR, Schmitt M. Brown JE, et al. Ophthalmic Genet. 2024 Feb;45(1):103-107. doi: 10.1080/13816810.2023.2216272. Epub 2023 May 23. Ophthalmic Genet. 2024. PMID: 37218682
PACS1 syndrome, also referred to as Schuurs-Hoeijmakers syndrome, is a multisystemic developmental disorder caused by a specific pathogenic variant in the PACS1 (phosphofurin acidic cluster sorting protein 1) gene. ...
PACS1 syndrome, also referred to as Schuurs-Hoeijmakers syndrome, is a multisystemic developmental disorder caused by a …