Premium
P 12.13: Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R
Author(s) -
Tangi A.,
Izzi C.,
Savoldi G.,
Gregorini M.,
Platto C.,
Prefumo F.,
Signorelli M.
Publication year - 2014
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.14224
Subject(s) - medicine , clinodactyly , macrocephaly , missense mutation , camptodactyly , failure to thrive , short stature , amniocentesis , prenatal diagnosis , pathology , anatomy , endocrinology , genetics , mutation , fetus , biology , pregnancy , gene