(Q46902758)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26871653%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26871653%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26871653%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Ghada M Abdel-Salam

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26871653%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

author name string

Mohamed S Abdel-Hamid

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26871653%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Maha M Eid

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26871653%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Inas S Mostafa

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26871653%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

publication date

12 February 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26871653%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

published in

Pediatric Dermatology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26871653%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

volume

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26871653%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26871653%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

page(s)

e109-13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26871653%20AND%20SRC:MED&resulttype=core&format=json

Cantú syndrome is caused by mutations in ABCC9.

7 March 2020

cites work

1 reference

Dominant missense mutations in ABCC9 cause Cantú syndrome.

21 January 2018

1 reference

An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis

21 January 2018

1 reference

Acromegaloid facial appearance (AFA) syndrome: report of a second family

21 January 2018

1 reference

Acromegaloid facial appearance syndrome: a further case report.

21 January 2018

1 reference

Cantu syndrome and lymphoedema.

21 January 2018

1 reference

An overview of frenal attachments

21 January 2018

1 reference

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations inABCC9

21 January 2018

1 reference

Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/PDE.12821

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26871653%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference