Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency-Reference-Cited by-同舟云学术

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Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency

Published:2020-05-28 Issue:8 Volume:182 Page:1952-1956
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Verberne Eline A.¹^ORCID,Faries Sonja²,Mannens Marcel M. A. M.¹,Postma Alex V.¹³,Haelst Mieke M.¹

Affiliation:

1. Department of Clinical Genetics, Amsterdam UMCUniversity of Amsterdam Amsterdam The Netherlands

2. Department of PediatricsCuraçao Medical Center Willemstad Curacao

3. Department of Medical Biology, Amsterdam UMCUniversity of Amsterdam Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61632

Reference15 articles.

1. Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

2. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

3. Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level?

4. Severe isolated growth hormone deficiency and myopathy in two brothers with RNPC3 mutation;Guceva Z.;Hormone Research in Pædiatrics,2015

5. Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

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1. Minor Spliceosomal 65K/RNPC3 Interacts with ANKRD11 and Mediates HDAC3‐Regulated Histone Deacetylation and Transcription;Advanced Science;2024-06-05

2. A novel RNPC3 gene variant expands the phenotype in patients with congenital hypopituitarism and neuropathy;Hormone Research in Paediatrics;2023-07-18

3. Use of whole exome sequencing for identification of genetic variants related to Growth Hormone Deficiency and Short Stature: A Family-Based Study;Pakistan Journal of Medical Sciences;2023-07-11

4. RIP-PEN-seq identifies a class of kink-turn RNAs as splicing regulators;Nature Biotechnology;2023-04-10

5. Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing;Frontiers in Endocrinology;2022-09-27

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