Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To <i>PTF1A</i> Enhancer Mutations

Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To <i>PTF1A</i> Enhancer Mutations

<h3>Context</h3><p dir="ltr">Biallelic mutations in the PTF1A enhancer are the commonest cause of isolated pancreatic agenesis. These patients do not have severe neurological features associated with loss-of-function PTF1A mutations. Their clinical phenotype and disease p...

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محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: Huseyin Demirbilek (566044) (author)
مؤلفون آخرون: Atilla Cayir (18718687) (author), Sarah E Flanagan (8231178) (author), Ruken Yıldırım (18718690) (author), Yılmaz Kor (18718693) (author), Fatih Gurbuz (16724559) (author), Belma Haliloğlu (18718696) (author), Melek Yıldız (16646389) (author), Rıza Taner Baran (18718699) (author), Emine Demet Akbas (18718702) (author), Meliha Demiral (18718705) (author), Edip Ünal (18718708) (author), Gulcin Arslan (18718711) (author), Dogus Vuralli (18112807) (author), Gonul Buyukyilmaz (18718714) (author), Sara Al-Khawaga (4792761) (author), Amira Saeed (14152857) (author), Maryam Al Maadheed (18718717) (author), Amel Khalifa (13020780) (author), Hasan Onal (18718720) (author), Bilgin Yuksel (16724595) (author), Mehmet Nuri Ozbek (18718723) (author), Abdullah Bereket (5165096) (author), Andrew T Hattersley (8231202) (author), Khalid Hussain (110443) (author), Elisa De Franco (8231166) (author)
منشور في: 2020
الموضوعات:
Biological sciences
Genetics
Biomedical and clinical sciences
Clinical sciences
Medical biochemistry and metabolomics
Paediatrics
PTF1A gene
permanent
neonatal diabetes
neonatal diabetes, pancreas agenesis/hypoplasia
cholestasis
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