Suzanne I M Alsters Anthony P Goldstone Jessica L Buxton Anna Zekavati Alona Sosinsky Andrianos M Yiorkas Susan Holder Robert E Klaber Nicola Bridges Mieke M van Haelst Carel W le Roux Andrew J Walley Robin G Walters Michael Mueller Alexandra I F Blakemore
10.1371/journal.pone.0131417
PLoS One
2015 Jun 29;10(6):e0131417.
CC BY
https://pubmed.ncbi.nlm.nih.gov/26120850/
Carboxypeptidase H / genetics Diabetes Mellitus, Type 2 / complications Intellectual Disability / complications Klinefelter Syndrome / complications Mutation / genetics Obesity, Morbid / complications Obesity, Morbid / genetics
Carboxypeptidase H / genetics Diabetes Mellitus, Type 2 / complications Intellectual Disability / complications Klinefelter Syndrome / complications Mutation / genetics Obesity, Morbid / complications Obesity, Morbid / genetics Case Reports Research Support, Non-U.S. Gov't Carboxypeptidase H / metabolism DNA Mutational Analysis Diabetes Mellitus, Type 2 / enzymology Diabetes Mellitus, Type 2 / genetics Exome / genetics Female Gene Expression Regulation, Enzymologic Homozygote Humans Intellectual Disability / genetics Klinefelter Syndrome / enzymology Klinefelter Syndrome / genetics Male Obesity, Morbid / enzymology Pedigree RNA, Messenger / genetics RNA, Messenger / metabolism Young Adult RNA, Messenger Carboxypeptidase H
PMC4485893
26120850
Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism
2015