An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome-Reference-Cited by-同舟云学术

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An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome

Published:2018-12 Issue:4 Volume:178 Page:414-422
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Moog Ute¹^ORCID,Dobyns William B.²³⁴^ORCID

Affiliation:

1. Institute of Human Genetics, Heidelberg University; Heidelberg Germany

2. Department of Pediatrics; University of Washington; Seattle Washington

3. Department of Neurology; University of Washington; Seattle Washington

4. Center for Integrative Brain Research; Seattle Children's Research Institute; Seattle Washington

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.c.31667/fullpdf

Reference24 articles.

1. Anophthalmia, intracerebral cysts, and cleft lip/palate: Expansion of the phenotype in oculocerebrocutaneous syndrome?;Angle;American Journal of Medical Genetics,1997

2. Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis;Bennett;American Journal of Human Genetics,2016

3. Oculocerebrocutaneous syndrome;Bleeker-Wagemakers;Journal of Medical Genetics,1990

4. Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis;Boppudi;Clinical Genetics,2016

5. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals;Bostwick;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics,2016

Cited by 12 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. Encephalocraniocutaneous Lipomatosis, a Radiological Challenge: Two Atypical Case Reports and Literature Review;Brain Sciences;2022-11-30

2. Diagnóstico prenatal de síndrome de Delleman-Oorthuys;Revista Peruana de Ginecología y Obstetricia;2022-07-06

3. Delleman- Oorthuys syndrome: A diagnostic dilemma!;Indian Dermatology Online Journal;2022

4. Oculocerebrocutaneous Syndrome (Delleman-Oorthuys Syndrome);Neurocutaneous Disorders;2022

5. From the inside out: oculocerebrocutaneous syndrome without dermatological manifestations;Child's Nervous System;2021-09-29

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