A Male Patient with mild Osteopathia Striata with Cranial Sclerosis, Expanding The Phenotypic Spectrum
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Presenting Author - Aya Abu-El-Haija, MD; Co-Author - Tomislav Glavan, .; Co-Author - Abdulrahman Aldeeri, MD; Co-Author - Ivana Mihalek, PhD;
Meta Tag
Clinical History
Phenotype
Phenotypic delineation of disorders
Co-Author Tomislav Glavan, .
Co-Author Abdulrahman Aldeeri, MD
Co-Author Ivana Mihalek, PhD
Presenting Author Aya Abu-El-Haija, MD
Keywords
Osteopathia Striata with Cranial Sclerosis
OSCS
AMER1 gene
pathogenic variants
trio exome sequencing
hemizygous AMER1 pathogenic variant
mosaic AMER1 variant
phenotypic spectrum
genotype-phenotype correlations
family counseling

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