A recurrent missense mutation in the
            EDAR
            gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families

Sadia; Jia Nee Foo; Chiea Chuen Khor; Musharraf Jelani; Ghazanfar Ali

doi:10.1002/jgm.3113

A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families

The Journal of Gene Medicine ◽

10.1002/jgm.3113 ◽

2019 ◽

Vol 21 (9) ◽

Author(s):

Sadia ◽

Jia Nee Foo ◽

Chiea Chuen Khor ◽

Musharraf Jelani ◽

Ghazanfar Ali

Keyword(s):

Missense Mutation ◽

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Hypohidrotic Ectodermal Dysplasia ◽

Edar Gene

Download Full-text

Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis

British Journal of Dermatology ◽

10.1111/bjd.12151 ◽

2013 ◽

Vol 168 (6) ◽

pp. 1353-1356 ◽

Cited By ~ 10

Author(s):

A. Haghighi ◽

P. Nikuei ◽

H. Haghighi-Kakhki ◽

N. Saleh-Gohari ◽

S. Baghestani ◽

...

Keyword(s):

Exome Sequencing ◽

Missense Mutation ◽

Whole Exome Sequencing ◽

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Hypohidrotic Ectodermal Dysplasia ◽

Whole Exome ◽

Palmoplantar Hyperkeratosis

Download Full-text

A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia

Archives of Dermatological Research ◽

10.1007/s00403-009-1013-z ◽

2009 ◽

Vol 302 (4) ◽

pp. 307-310 ◽

Cited By ~ 7

Author(s):

M. R. Moya-Quiles ◽

M. J. Ballesta-Martínez ◽

V. López-González ◽

G. Glover ◽

E. Guillén-Navarro

Keyword(s):

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Hypohidrotic Ectodermal Dysplasia ◽

Spanish Family ◽

Edar Gene

Download Full-text

A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia

British Journal of Dermatology ◽

10.1111/j.1365-2133.2007.07949.x ◽

2007 ◽

Vol 157 (1) ◽

pp. 207-209 ◽

Cited By ~ 14

Author(s):

M. Tariq ◽

N. Wasif ◽

W. Ahmad

Keyword(s):

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Deletion Mutation ◽

Pakistani Family ◽

Hypohidrotic Ectodermal Dysplasia ◽

Edar Gene

Download Full-text

Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia

British Journal of Dermatology ◽

10.1111/j.1365-2133.2005.06642.x ◽

2005 ◽

Vol 153 (1) ◽

pp. 46-50 ◽

Cited By ~ 23

Author(s):

M. Naeem ◽

D. Muhammad ◽

W. Ahmad

Keyword(s):

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Hypohidrotic Ectodermal Dysplasia ◽

Novel Mutations ◽

Edar Gene

Download Full-text

Autosomal recessive hypohidrotic ectodermal dysplasia: Dental manifestations

Oral Surgery Oral Medicine Oral Pathology ◽

10.1016/0030-4220(72)90441-0 ◽

1972 ◽

Vol 33 (5) ◽

pp. 736-742 ◽

Cited By ~ 12

Author(s):

Richard C. Bartlett ◽

Lewis R. Eversole ◽

Robert S. Adkins

Keyword(s):

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Hypohidrotic Ectodermal Dysplasia

Download Full-text

A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene

BMC Genetics ◽

10.1186/1471-2156-12-91 ◽

2011 ◽

Vol 12 (1) ◽

pp. 91 ◽

Cited By ~ 12

Author(s):

Takashi Kuramoto ◽

Mayuko Yokoe ◽

Ryoko Hashimoto ◽

Hiroshi Hiai ◽

Tadao Serikawa

Keyword(s):

Missense Mutation ◽

Rat Model ◽

Ectodermal Dysplasia ◽

Hypohidrotic Ectodermal Dysplasia

Download Full-text

A novel missense mutation in the geneEDARADDassociated with an unusual phenotype of hypohidrotic ectodermal dysplasia

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.37412 ◽

2015 ◽

Vol 170 (1) ◽

pp. 249-253 ◽

Cited By ~ 9

Author(s):

Sigrun Wohlfart ◽

Stephan Söder ◽

Asma Smahi ◽

Holm Schneider

Keyword(s):

Missense Mutation ◽

Ectodermal Dysplasia ◽

Hypohidrotic Ectodermal Dysplasia ◽

Unusual Phenotype

Download Full-text

Definitive Evidence for an Autosomal Recessive Form of Hypohidrotic Ectodermal Dysplasia Clinically Indistinguishable rom the More Common X-Linked Disorde

The American Journal of Human Genetics ◽

10.1086/513905 ◽

1997 ◽

Vol 61 (1) ◽

pp. 94-100 ◽

Cited By ~ 45

Author(s):

R. Munoz ◽

G. Lestringant ◽

V. Sybert ◽

M. Frydman ◽

A. Alswaini ◽

...

Keyword(s):

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Hypohidrotic Ectodermal Dysplasia ◽

Definitive Evidence ◽

Autosomal Recessive Form ◽

Recessive Form

Download Full-text

Hypohidrotic ectodermal dysplasia caused by a missense mutation in the EDA gene

European Journal of Dermatology ◽

10.1684/ejd.2011.1460 ◽

2011 ◽

Vol 21 (5) ◽

pp. 801-803

Author(s):

Atsushi Fujimoto ◽

Muhammad Farooq ◽

Nobuyuki Sato ◽

Yukiko Masui ◽

Hiroki Fujikawa ◽

...

Keyword(s):

Missense Mutation ◽

Ectodermal Dysplasia ◽

Hypohidrotic Ectodermal Dysplasia ◽

Eda Gene

Download Full-text

A Novel Splice Site Mutation in theEDARGene Underlies Autosomal Recessive Hypohidrotic Ectodermal Dysplasia in a Pakistani Family

Pediatric Dermatology ◽

10.1111/j.1525-1470.2009.01062.x ◽

2010 ◽

Vol 27 (1) ◽

pp. 106-108 ◽

Cited By ~ 2

Author(s):

NAVEED WASIF ◽

MUHAMMAD TARIQ ◽

GHAZANFAR ALI ◽

MUHAMMAD JAWAD HASSAN ◽

WASIM AHMAD

Keyword(s):

Splice Site ◽

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Splice Site Mutation ◽

Pakistani Family ◽

Hypohidrotic Ectodermal Dysplasia ◽

Site Mutation

Download Full-text