title: Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence.
abstract: Shwachman-Diamond syndrome (SDS) is a rare inherited bone marrow failure syndrome, characterised by neutropenia, exocrine pancreatic dysfunction and often skeletal abnormalities. To date, and to our knowledge, we report a novel genetic mutation in SDS that, we believe, is associated with minimal consequence,and report the fertility and pregnancy in this individual.
authors.affiliation: Brighton and Sussex Medical School, Falmer, UK. gillianhorne@doctors.org.uk
authors.forename: Gillian A
authors.initials: GA
authors.lastname: Horne
authors.forename: Timothy
authors.initials: T
authors.lastname: Chevassut
mesh_terms: D000328:Adult; D001853:Bone Marrow / Q000473:pathology*; D001855:Bone Marrow Diseases / Q000150:complications* / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications* / Q000235:genetics*; D005260:Female; D005298:Fertility; D006801:Humans; D008068:Lipomatosis / Q000150:complications* / Q000235:genetics*; D009154:Mutation; D009503:Neutropenia / Q000235:genetics; D010182:Pancreatic Diseases / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics*; D000081003:Shwachman-Diamond Syndrome