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Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the… Click to show full abstract
Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of less than 1/1,000,000. It is secondary to pathogenic variants in the FAM20 C gene, located on chromosome 7p22.3.
Keywords:
novel mutation;
raine syndrome;
mutation review;
syndrome report;
review different;
report novel
Journal Title: Prenatal Diagnosis
Year Published: 2022
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Journal Title: Prenatal Diagnosis
Year Published: 2022
Link to full text (if available)
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recommendations!