Growth pattern in Kabuki syndrome with aKMT2Dmutation-Reference-Cited by-同舟云学术

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Growth pattern in Kabuki syndrome with aKMT2Dmutation

Published:2016-08-17 Issue:12 Volume:170 Page:3172-3179
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Schott Dina A.¹,Blok Marinus J.²,Gerver Willem J. M.³,Devriendt Koenraad⁴,Zimmermann Luc J. I.⁵,Stumpel Constance T. R. M.²

Affiliation:

1. Department of Paediatrics Endocrinology; Zuyderland Medical Centre; Heerlen The Netherlands

2. Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW); Maastricht UMC+; Maastricht The Netherlands

3. Department of Paediatrics Endocrinology; Maastricht UMC+; Maastricht The Netherlands

4. Centre for Human Genetics; University of Leuven; Leuven Belgium

5. Department of Paediatrics Neonatology; Maastricht UMC+; Maastricht The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference26 articles.

1. Unmasking Kabuki syndrome;Bogershausen;Clin Genet,2013

2. Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome;Devriendt;Horm Res,1995

3. Kabuki syndrome and growth hormone deficiency: Description of a case treated by long-term hormone replacement;Gabrielli;Clin Dysmorphol,2002

4. Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature;Genevieve;Am J Med Genet A,2004

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1. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes;The American Journal of Human Genetics;2024-08

2. Kabuki syndrome. Presentation of a case;MED BALEAR;2024

3. Growth deficiency in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1;PLOS Genetics;2024-06-10

4. Clinical and molecular characteristics of Korean patients with Kabuki syndrome;Journal of Human Genetics;2024-06-01

5. Role of histone methyltransferase KMT2D in BMSC osteogenesis via AKT signaling;Regenerative Therapy;2024-06

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