Primordial dwarfism
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Nutrition and Dietetics,Endocrinology,Endocrinology, Diabetes and Metabolism,Internal Medicine
Reference65 articles.
1. Failure to Thrive/Growth Deficiency
2. Genomic analysis of primordial dwarfism reveals novel disease genes
3. A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome
4. Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome
5. CtIP Mutations Cause Seckel and Jawad Syndromes
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1. A novel biallelic CRIPT variant in a patient with short stature, microcephaly, and distinctive facial features;American Journal of Medical Genetics Part A;2023-01-11
2. The chromatin remodeling protein CHD-1 and the EFL-1/DPL-1 transcription factor cooperatively down regulate CDK-2 to control SAS-6 levels and centriole number;PLOS Genetics;2022-04-04
3. Influence and Effect of Acupoint Application of Chinese Medicine on Height and Bone Age of Children with Short Stature;Evidence-Based Complementary and Alternative Medicine;2021-10-29
4. The Chromatin Remodeling Protein CHD-1 and the EFL-1/DPL-1 Transcription Factor Cooperatively Down Regulate CDK-2 to Control SAS-6 Levels and Centriole Number;2021-09-03
5. Study on pathogenic genes of dwarfism disease by next-generation sequencing;World Journal of Clinical Cases;2021-03-06
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