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hrp0082p1-d1-176 | Perinatal and Neonatal Endocrinology | ESPE2014

A Novel Mutation of the PCSK1 Gene with Surprising Enzymatic Consequences Causes Proprotein Convertase 1/3 Deficiency and Consequent Endocrinopaties

Abu-Libdeh Abdulsalam , Wilschanski Michael , Abbasi Montaser , Blanco Elias , Lindberg Iris , Yourshaw Michael , Berger Itai , Martin Martin , Elpeleg Orly , Zangen David

Background: Congenital diarrheal disorders (CDDs) are a large group of life-threatening genetic disorders that are frequently difficult to diagnose. We report four siblings from consanguineous kindred with persistent generalized malabsorptive diarrhea hypothyroidism, GH deficiency, intermittent diabetes insipidus, and monogenic obesity.Objective and hypotheses: To find the genetic etiology for the CDD in four cases from consanguineous family using homozy...

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ESPE Abstracts

A Novel Mutation of the PCSK1 Gene with Surprising Enzymatic Consequences Causes Proprotein Convertase 1/3 Deficiency and Consequent Endocrinopaties

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