Two Novel PNLIP Mutations Causing Congenital Lipase Deficiency in Identical Twin Boys
J Pediatr Gastroenterol Nutr
.
2020 Apr;70(4):e85-e86.
doi: 10.1097/MPG.0000000000002641.
Authors
Lena Gottesman-Katz
1
,
Wendy Chung
2
,
Rebecca Hernan
3
,
Amy R DeFelice
1
Affiliations
1
Division of Pediatric Gastroenterology, Hepatology, and Nutrition.
2
Division of Molecular Genetics.
3
Division of Clinical Genetics, Columbia University Medical Center, New York, NY.
PMID:
31977950
DOI:
10.1097/MPG.0000000000002641
No abstract available
Publication types
Letter
MeSH terms
Humans
Lipase* / genetics
Male
Metabolic Diseases*
Mutation
Pancreas
Twins, Monozygotic / genetics
Substances
Lipase