High yield of monogenic short stature in children from Kurdistan, Iraq: A genetic testing algorithm for consanguineous families

Genetic testing in consanguineous families advances the general comprehension of pathophysiological pathways. However, short stature (SS) genetics remain unexplored in a defined consanguineous cohort. This study examines a unique pediatric cohort from Sulaimani, Iraq, aiming to inspire a genetic tes...

Celý popis

Uložené v:

Podrobná bibliografia
Vydané v:	Genetics in medicine Ročník 27; číslo 2; s. 101332
Hlavní autori:	Amaratunga, Shenali Anne, Tayeb, Tara Hussein, Dusatkova, Petra, Elblova, Lenka, Drabova, Jana, Plachy, Lukas, Pruhova, Stepanka, Lebl, Jan
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	United States 01.02.2025
Predmet:	Adolescent Algorithms Body Height - genetics Child Child, Preschool Consanguinity Dwarfism - diagnosis Dwarfism - epidemiology Dwarfism - genetics Exome Sequencing Female Genetic Testing - methods Humans Iraq - epidemiology Male Pedigree Iraq Genetic testing algorithm Short stature Consanguinity Short stature genes Pediatric endocrinology
ISSN:	1530-0366, 1530-0366
On-line prístup:	Zistit podrobnosti o prístupe
Tagy:	Pridať tag Žiadne tagy, Buďte prvý, kto otaguje tento záznam!

Buďte prvý, kto okomentuje tento záznam!