Severe osteopathia striata with cranial sclerosis in a female case with wholeWTXgene deletion
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference35 articles.
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1. The phenotypic spectrum of AMER1 ‐related osteopathia striata with cranial sclerosis: The first Canadian cohort;American Journal of Medical Genetics Part A;2021-08-20
2. Orthognathic surgery in a patient with osteopathia striata combined with cranial sclerosis: A case report;Oral and Maxillofacial Surgery Cases;2020-12
3. Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1;Journal of Pediatric Genetics;2020-04-21
4. An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia;The Journal of Clinical Endocrinology & Metabolism;2020-01-23
5. First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2;Clinical Dysmorphology;2017-10
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