TY  - GEN
AU  - Roche,Edna F
AU  - McGowan,Anne
AU  - Koulouri,Olympia
AU  - Turgeon,Marc-Olivier
AU  - Nicholas,Adeline K
AU  - Heffernan,Emmeline
AU  - El-Khairi,Ranna
AU  - Abid,Noina
AU  - Lyons,Greta
AU  - Halsall,David
AU  - Bonomi,Marco
AU  - Persani,Luca
AU  - Dattani,Mehul T
AU  - Gurnell,Mark
AU  - Bernard,Daniel J
AU  - Schoenmakers,Nadia
TI  - A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome
SN  - 1365-2265
PY  - 2019///1202
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Child
KW  - Child, Preschool
KW  - Congenital Hypothyroidism
KW  - blood
KW  - Female
KW  - Humans
KW  - Immunoglobulins
KW  - genetics
KW  - Infant
KW  - Ireland
KW  - Male
KW  - Membrane Proteins
KW  - Middle Aged
KW  - Mutation
KW  - Thyroxine
KW  - Triiodothyronine
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/cen.13827
ER  -