Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination-Reference-Cited by-同舟云学术

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Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination

Published:2012-08-14 Issue:3 Volume:77 Page:335-342
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Clayton Peter E.,Hanson Dan¹,Magee Lucia¹,Murray Philip G.¹,Saunders Emma¹,Abu-Amero Sayeda N.²,Moore Gudrun E.³,Black Graeme C. M.

Affiliation:

1. Developmental Biomedicine, Manchester Academic Health Sciences Centre (MAHSC); School of Biomedicine, University of Manchester; Manchester; UK

2. Institute of Child Health; Baby Bio Bank; London; UK

3. Institute of Child Health, Clinical and Molecular Genetics; London; UK

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2012.04428.x/fullpdf

Reference51 articles.

1. The 3-Msyndrome: a heritable low birthweight dwarfism;Miller;Birth Defects Original Article Series,1975

2. 3-M syndrome: description of six new patients with review of the literature;Wal;Clinical Dysmorphology,2001

3. The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1;Hanson;American Journal of Human Genetics,2009

4. Exome sequencing identifies CCDC8 Mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth;Hanson;American Journal of Human Genetics,2011

5. Identification of mutations in CUL7 in 3-M syndrome;Huber;Nature Genetics,2005

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1. 3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience;European Journal of Medical Genetics;2023-10

2. Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants;Frontiers in Genetics;2023-08-31

3. Structural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani family;Journal of Biomolecular Structure and Dynamics;2023-06-22

4. International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood;Endocrine Reviews;2023-01-13

5. A new era of genetic diagnosis for short stature children: A review;Precision and Future Medicine;2022-12-31

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