Diaphyseal and Metaphyseal Modeling Defects —Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia

Conclusions: We describe her clinical and radiological findings and presented a new subtype without wormian bones and with a tall stature. Our study showed that craniometadiaphyseal dysplasia was caused by a deficiency of WRAP53 with autosomal recessive inheritance.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research