A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis
Küçük Resim Yok
Tarih
2019
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Turkish J Pediatrics
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Osteopoikilosis (OPK) is a rare, benign condition characterized by osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrists, feet, ankles, pelvis, and scapulae. We report a 16-year-old boy and his mother incidentally found to have sclerotic lesions on X-ray. Both of them were asymptomatic and the bone scan of the boy ruled out osteoblastic metastases. We have shown that the boy and his mother have a previously unknown pathogenic variant of the LEMD3 gene, supporting the diagnosis of osteopoikilosis.
Açıklama
Anahtar Kelimeler
Osteopoikilosis, LEMD3, Pathogenic Variation, Buschke-Ollendorff-Syndrome, Mutations
Kaynak
Turkish Journal Of Pediatrics
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
61
Sayı
4
