التفاصيل البيبلوغرافية
العنوان:
Turner-like Syndrome: a case report
المؤلفون:
Stefania Arasi , Malgorzata Wasniewska , M. Romeo , E. Pitrolo , Domenico Corica , R. Crisafulli , M.R. Velletri , Mariella Valenzise , Simona Santucci , A. Santisi , Giuseppina Zirilli
المصدر:
La Pediatria Medica e Chirurgica, Vol 35, Iss 5 (2013)
بيانات النشر:
PAGEPress Publications, 2013.
سنة النشر:
2013
مصطلحات موضوعية:
Pediatrics , medicine.medical_specialty , congenital, hereditary, and neonatal diseases and abnormalities , Body height , Anemia , media_common.quotation_subject , Karyotype , lcsh:Surgery , Turner Syndrome , Short stature , hemic and lymphatic diseases , Turner syndrome , medicine , Humans , Abnormalities, Multiple , Girl , Blackfan diamond anemia , Child , media_common , Anemia, Diamond-Blackfan , RPL5 mutation , business.industry , Blackfan-Diamond anemia , lcsh:RJ1-570 , lcsh:Pediatrics , Turner-like phenotype , lcsh:RD1-811 , medicine.disease , Body Height , Turner phenotype , Pediatrics, Perinatology and Child Health , Noonan syndrome , Surgery , Female , medicine.symptom , business
الوصف:
A prepubescent 11 year-old girl came to our attention for short stature. Auxological evaluation showed peculiar phenotype. In order to exclude Turner syndrome standard karyotype was performed with normal result. Because of anemia and selective deficiency of the erythroid lineage further investigations were performed and a diagnosis of Blackfan-Diamond anemia was made.
اللغة:
English
تدمد:
2420-7748
URL الوصول:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7dc5841fe6e5489d92fda69bd987adb http://www.pediatrmedchir.org/index.php/pmc/article/view/33
حقوق:
OPEN
رقم الأكسشن:
edsair.doi.dedup.....b7dc5841fe6e5489d92fda69bd987adb
قاعدة البيانات:
OpenAIRE
