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ey0017.2-10 | Neonatal Diabetes Mellitus | ESPEYB17

2.10. The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the State of Qatar

S Al-Khawaga , I Mohammed , S Saraswathi , B Haris , R Hasnah , A Saeed , H Almabrazi , N Syed , P Jithesh , A El Awwa , A Khalifa , F AlKhalaf , G Petrovski , EM Abdelalim , K Hussain

To read the full abstract: Mol Genet Genomic Med., 2019 Oct;7(10):e00753. doi: 10.1002/mgg3.753. Epub 2019 Aug 23. PMID: 31441606The unique population in the State of Qatar comprises over 2.6 million people who derived primarily from the Middle East and North Africa (MENA) and South Asia regions. Around 15% are indigenous Qataris of Arabian Peninsula ancestries, who have also immigrated to the St...

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ey0015.5-4 | New genes and gene mutations | ESPEYB15

5.4 Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

T Cundy , M Dray , J Delahunt , JD Hald , B Langdahl , C Li , M Szybowska , S Mohammed , EL Duncan , AM McInerney-Leo , PG Wheeler , P Roschger , K Klaushofer , J Rai , M Weis , D Eyre , U Schwarze , PH Byers

To read the full abstract: J Bone Miner Res 2018;33(7):1260-1271Osteogenesis imperfecta (OI) is characterized by early-onset skeletal fragility, often short stature, blue sclerae and some other features. OI is caused by mutations in the two genes encoding type I collagen, namely COL1A1 and COL1A2. Some previous reports have indicated that when the mutation involves the C-propeptide cleavage site in e...

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ESPE Yearbook of Paediatric Endocrinology

2.10. The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the State of Qatar

5.4 Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

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