A CLINICAL CASE OF LARON SYNDROME IN THREE SIBLINGS

Autor:	Яна Вячеславовна Юнкина, Алла Дмитриевна Алексеева, Галина Андреевна Поленчик, Наталья Александровна Жданова
Jazyk:	ruština
Rok vydání:	2022
Předmět:	синдром ларона низкорослость гормон роста инсулиноподобный фактор роста – 1 Pediatrics RJ1-570 Gynecology and obstetrics RG1-991
Zdroj:	Мать и дитя в Кузбассе, Vol 23, Iss 4, Pp 96-101 (2022)
Druh dokumentu:	article
ISSN:	1991-010X 2542-0968
Popis:	Laron syndrome (Laron dwarfism) is a rare genetic disease with an autosomal recessive type of inheritance caused by defects in the somatotropic hormone receptor gene (GHR gene), leading to insensitivity of peripheral tissues to growth hormone. Typical manifestations include low height, "doll face", overweight. Currently, the number of patients worldwide is about 350. This article describes a case of Laron syndrome in three children from the same family.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/115a912df32449228190e9db7f9473ae Zobrazit plný text záznamu View record in DOAJ