ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0019.13-14 | Endocrinology | ESPEYB19

13.14. Invaluable role of consanguinity in providing insight into paediatric endocrine conditions: lessons learnt from congenital hyperinsulinism, monogenic diabetes, and short stature

SA Amaratunga , TH Tayeb , P Dusatkova , S Pruhova , J Lebl

shenali.amaratunga@fnmotol.cz Horm Res Paediatr 2022; 95:1–11. doi: 10.1159/000521210Brief Summary: This review highlights the value of consanguinity in the discovery of novel genes for three endocrine conditions with increasing pathophysiological complexity: congenital hyperinsulinism, monogenic diabetes and short stature.<p class="abstex...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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