Infantile systemic hyalinosis with early thyroid dysfunction
Küçük Resim Yok
Tarih
2007
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
WALTER DE GRUYTER GMBH
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Infantile systemic hyalinosis is an autosomal recessive disorder characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscles and glands. The molecular basis of infantile systemic hyalinosis is unknown. The main pathological feature is widespread hyalinosis of many tissues and organs. We present an 18 month-old girl with infantile systemic hyalinosis and hypothyroidism. Newly diagnosed children with infantile systemic hyalinosis should have thyroid studies as a routine part of diagnostic work-up.
Açıklama
Anahtar Kelimeler
infantile systemic hyalinosis, hypothyroidism
Kaynak
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
20
Sayı
7
