Schuurs‐Hoeijmakers syndrome in two patients from Japan-Reference-Cited by-同舟云学术

Schuurs‐Hoeijmakers syndrome in two patients from Japan

Published:2018-12-27 Issue:3 Volume:179 Page:341-343
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Hoshino Yusuke¹^ORCID,Enokizono Takashi²,Imagawa Kazuo²,Tanaka Ryuta²,Suzuki Hisato²,Fukushima Hiroko²,Arai Junichi¹,Sumazaki Ryo²,Uehara Tomoko³^ORCID,Takenouchi Toshiki³,Kosaki Kenjiro³

Affiliation:

1. Department of NeonatologyIbaraki Children's Hospital Mito Japan

2. Department of Child Health, Faculty of MedicineUniversity of Tsukuba Tsukuba Japan

3. Center for Medical GeneticsKeio University School of Medicine Tokyo Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.9

Reference5 articles.

1. Management of lipomyelomeningoceles

2. Ocular manifestations of PACS1 mutation

3. Lipomyelomeningocele: pathology, treatment, and outcomes

4. Clinical delineation of thePACS1-related syndrome-Report on 19 patients

5. Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

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