FOXP1-related intellectual disability syndrome: a recognisable entity
FOXP1-related intellectual disability syndrome: a recognisable entity
About this item
Full title
Author / Creator
Meerschaut, Ilse , Rochefort, Daniel , Revençu, Nicole , Pètre, Justine , Corsello, Christina , Rouleau, Guy A , Hamdan, Fadi F , Michaud, Jacques L , Morton, Jenny , Radley, Jessica , Ragge, Nicola , García-Miñaúr, Sixto , Lapunzina, Pablo , Bralo, Maria Palomares , Mori, Maria Ángeles , Moortgat, Stéphanie , Benoit, Valérie , Mary, Sandrine , Bockaert, Nele , Oostra, Ann , Vanakker, Olivier , Velinov, Milen , de Ravel, Thomy JL , Mekahli, Djalila , Sebat, Jonathan , Vaux, Keith K , DiDonato, Nataliya , Hanson-Kahn, Andrea K , Hudgins, Louanne , Dallapiccola, Bruno , Novelli, Antonio , Tarani, Luigi , Andrieux, Joris , Parker, Michael J , Neas, Katherine , Ceulemans, Berten , Schoonjans, An-Sofie , Prchalova, Darina , Havlovicova, Marketa , Hancarova, Miroslava , Budisteanu, Magdalena , Dheedene, Annelies , Menten, Björn , Dion, Patrick A , Lederer, Damien and Callewaert, Bert
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group LTD
Subjects
More information
Scope and Contents
Contents
BackgroundMutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far.MethodsWe correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOX...
Alternative Titles
Full title
FOXP1-related intellectual disability syndrome: a recognisable entity
Authors, Artists and Contributors
Author / Creator
Rochefort, Daniel
Revençu, Nicole
Pètre, Justine
Corsello, Christina
Rouleau, Guy A
Hamdan, Fadi F
Michaud, Jacques L
Morton, Jenny
Radley, Jessica
Ragge, Nicola
García-Miñaúr, Sixto
Lapunzina, Pablo
Bralo, Maria Palomares
Mori, Maria Ángeles
Moortgat, Stéphanie
Benoit, Valérie
Mary, Sandrine
Bockaert, Nele
Oostra, Ann
Vanakker, Olivier
Velinov, Milen
de Ravel, Thomy JL
Mekahli, Djalila
Sebat, Jonathan
Vaux, Keith K
DiDonato, Nataliya
Hanson-Kahn, Andrea K
Hudgins, Louanne
Dallapiccola, Bruno
Novelli, Antonio
Tarani, Luigi
Andrieux, Joris
Parker, Michael J
Neas, Katherine
Ceulemans, Berten
Schoonjans, An-Sofie
Prchalova, Darina
Havlovicova, Marketa
Hancarova, Miroslava
Budisteanu, Magdalena
Dheedene, Annelies
Menten, Björn
Dion, Patrick A
Lederer, Damien
Callewaert, Bert
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1923111316
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1923111316
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2017-104579
