Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn-Reference-Cited by-同舟云学术

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Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn

Published:2017-04-06 Issue:6 Volume:173 Page:1586-1592
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Wigby Kristen¹^ORCID,Twigg Stephen R. F.²,Broderick Ryan³,Davenport Katherine P.³,Wilkie Andrew O. M.²,Bickler Stephen W.³,Jones Marilyn C.¹

Affiliation:

1. Department of Pediatrics; University of California San Diego and Rady Children's Hospital - San Diego; San Diego California

2. Clinical Genetics Group; Weatherall Institute of Molecular Medicine; University of Oxford; Oxford UK

3. Department of Surgery; University of California San Diego and Rady Children's Hospital - San Diego; San Diego California

Funder

Wellcome

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. Smoothened variants explain the majority of drug resistance in basal cell carcinoma;Atwood;Cancer Cell,2015

2. Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations;Brastianos;Nature Genetics,2013

3. The mechanisms of hedgehog signaling and its roles in development and disease;Briscoe;Nature Reviews Molecular Cell Biology,2013

4. Craniosynostosis update 1987;Cohen;American Journal of Medical Genetics Supplement,1988

5. Curry , C. 1987

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Perioperative anesthesia management in a patient with curry jones syndrome;Pediatric Practice and Research;2023-07-31

2. Happle–Tinschert, Curry–Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum;British Journal of Dermatology;2019-05-23

3. Generation of a SMO homozygous knockout human embryonic stem cell line WAe001-A-16 by CRISPR/Cas9 editing;Stem Cell Research;2018-03

4. Clinical genetics of craniosynostosis;Current Opinion in Pediatrics;2017-12

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