Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35619/fullpdf
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1. Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass;JBMR Plus;2022-07-05
2. 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
3. Genetic Counseling: Preconception, Prenatal, and Perinatal;Genetic Disorders and the Fetus;2021-04-20
4. 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
5. Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation;American Journal of Medical Genetics Part A;2017-05-12
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