A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency-Reference-Cited by-同舟云学术

A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency

Published:2017-06-06 Issue:8 Volume:173 Page:2261-2267
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Parsons Samuel J. H.¹^ORCID,Wright Neville B.²,Burkitt-Wright Emma³⁴,Skae Mars S.⁵,Murray Phillip G.¹⁵

Affiliation:

1. Manchester Academic Health Sciences Centre, Centre for Paediatrics and Child Health, Institute of Human Development; University of Manchester; Manchester UK

2. Department of Paediatric Radiology; Royal Manchester Children's Hospital; Manchester UK

3. Genomic Medicine; St Mary's Hospital; Manchester UK

4. Manchester Academic Health Sciences Centre, Centre for Genomic Medicine, Institute of Human Development; University of Manchester; Manchester UK

5. Department of Paediatric Endocrinology; Royal Manchester Children's Hospital; Manchester UK

Funder

National Institute on Handicapped Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38306/fullpdf

Reference38 articles.

1. Genetic forms of hypopituitarism and their manifestation in the neonatal period;Alatzoglou;Early Human Development,2009

2. Alagille syndrome and deletion of 20p;Anad;Journal of Medical Genetics,1990

3. Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children;Argyropoulou;Pediatric Radiology,1991

4. Impact of retinoic acid exposure on midfacial shape variation and manifestation of holoprosencephaly in Twsg1 mutant mice;Billington;Disease Models & Mechanisms,2015

5. Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency;Breitfeld;BMC Endocrine Disorders,2013

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