Laron syndrome related to homozygous growth hormone receptor c.784>C mutation in a patient with hypoplastic pulmonary arteries

Basit Öğe Kaydı
dc.authoridÇamtosun, Emine/0000-0002-8144-4409
dc.authoridKARAKURT, CEMŞIT/0000-0002-9246-8107
dc.authoridDundar, Ismail/0000-0003-1468-6405
dc.authoridAkinci, Aysehan/0000-0001-7267-9444
dc.authoridDundar, Ismail/0000-0003-1468-6405
dc.authorwosidÇamtosun, Emine/AAE-3945-2020
dc.authorwosidKARAKURT, CEMŞIT/ABE-2330-2020
dc.authorwosidDundar, Ismail/AAA-2528-2021
dc.authorwosidAkinci, Aysehan/AAC-6847-2021
dc.authorwosidDundar, Ismail/ABG-2027-2021
dc.contributor.authorAkinci, Aysehan
dc.contributor.authorKarakurt, Cemsit
dc.contributor.authorHwa, Vivian
dc.contributor.authorDundar, Ismail
dc.contributor.authorCamtosun, Emine
dc.date.accessioned2024-08-04T20:46:00Z
dc.date.available2024-08-04T20:46:00Z
dc.date.issued2019
dc.departmentİnönü Üniversitesien_US
dc.description.abstractLaron syndrome, also known as growth hormone insensitivity, is an autosomal recessive disorder characterised by short stature due to mutations or deletions in the growth hormone receptor (GHR), leading to congenital insulin-like growth factor 1 (IGF1) deficiency. Cardiac abnormalities, such as patent ductus arteriosus or peripheral vascular disease are rare in patients with Laron syndrome, but cardiac hypertrophy has been observed after IGF1 therapy. In this report, we present a 10-year-and-5-month-old girl with severe peripheral-type pulmonary artery hypoplasia and Laron syndrome related to homozygous GHR c.784>C mutation.en_US
dc.identifier.doi10.5830/CVJA-2019-002
dc.identifier.endpageE8en_US
dc.identifier.issn1995-1892
dc.identifier.issn1680-0745
dc.identifier.issue2en_US
dc.identifier.pmid30720842en_US
dc.identifier.scopus2-s2.0-85067131509en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpageE7en_US
dc.identifier.urihttps://doi.org/10.5830/CVJA-2019-002
dc.identifier.urihttps://hdl.handle.net/11616/98828
dc.identifier.volume30en_US
dc.identifier.wosWOS:000482772200002en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherClinics Cardive Publ Pty Ltden_US
dc.relation.ispartofCardiovascular Journal of Africaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectLaron syndromeen_US
dc.subjecthypoplasiaen_US
dc.subjectpulmonary arteriesen_US
dc.titleLaron syndrome related to homozygous growth hormone receptor c.784>C mutation in a patient with hypoplastic pulmonary arteriesen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu