Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspotSRCAPmutation-Reference-Cited by-同舟云学术

Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspotSRCAPmutation

Published:2013-12-20 Issue:3 Volume:164 Page:731-735
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Nagasaki Keisuke¹²,Asami Tadashi³,Sato Hidetoshi²,Ogawa Yohei²,Kikuchi Toru²,Saitoh Akihiko²,Ogata Tsutomu¹⁴,Fukami Maki¹

Affiliation:

1. Department of Molecular Endocrinology; National Research Institute for Child Health and Development; Tokyo Japan

2. Division of Pediatrics; Department of Homeostatic Regulation and Development; Niigata University Graduate School of Medical and Dental Sciences; Niigata Japan

3. Faculty of Nursing, Social Welfare, and Psychology, Department of Nursing; Niigata Seiryo University; Niigata Japan

4. Department of Pediatrics; Hamamatsu University School of Medicine; Hamamatsu Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. Pseudohypoparathyroidism. New insights into an old disease;Bastepe;Endocrinol Metab Clin North Am,2000

2. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome;Hood;Am J Hum Genet,2012

3. Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese;Ichida;Clin Genet,2008

4. Identification of a novel SNF2/SWI2 protein family member, SRCAP, which interacts with CREB-binding protein;Johnston;J Biol Chem,1999

5. Not all Floating-Harbor syndrome cases are due to mutations in exon 34 of SRCAP;Le Goff;Hum Mutat,2013

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1. A Case of Floating-Harbor Syndrome with “Growth and Language Development Delay” as Its Clinical Manifestation;Pharmacogenomics and Personalized Medicine;2023-12

2. Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review;Frontiers in Genetics;2022-05-18

3. Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review;Frontiers in Pediatrics;2021-11-05

4. Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome;Annals of Pediatric Endocrinology & Metabolism;2020-06-30

5. Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip;The Cleft Palate-Craniofacial Journal;2019-06-27