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

Definitive Evidence ◽

Hypohidrotic Ectodermal Dysplasia: Argument Against an Autosomal Recessive Form Clinically Indistinguishable from X-Linked Hypohidrotic Ectodermal Dysplasia (Christ-Siemens-Touraine Syndrome)

Pediatric Dermatology ◽

10.1111/j.1525-1470.1989.tb01002.x ◽

1989 ◽

Vol 6 (2) ◽

pp. 76-81 ◽

Cited By ~ 8

Author(s):

Virginia P. Sybert

Keyword(s):

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India

British Journal of Dermatology ◽

10.1111/j.1365-2133.2011.10707.x ◽

2012 ◽

Vol 166 (4) ◽

pp. 819-829 ◽

Cited By ~ 11

Author(s):

M.D. Bashyam ◽

A.K. Chaudhary ◽

E.C. Reddy ◽

V. Reddy ◽

V. Acharya ◽

...

Keyword(s):

High Frequency ◽

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Faculty Opinions recommendation of Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718690317.793517820 ◽

2016 ◽

Author(s):

Anthony DeFranco

Keyword(s):

Autosomal Recessive ◽

Cytidine Deaminase ◽

Hyper Igm Syndrome ◽

Activation Induced Cytidine Deaminase ◽

Recessive Form ◽

Hyper Igm

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 ◽

Whole Exome ◽

Palmoplantar Hyperkeratosis

ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency

Science ◽

10.1126/science.8202713 ◽

1994 ◽

Vol 264 (5165) ◽

pp. 1599-1601 ◽

Cited By ~ 348

Author(s):

A. Chan ◽

T. Kadlecek ◽

M. Elder ◽

A. Filipovich ◽

W. Kuo ◽

...

Keyword(s):

Autosomal Recessive ◽

Severe Combined Immunodeficiency ◽

Combined Immunodeficiency ◽

Distal hereditary motor neuropathy (DHMN): a new locus for an autosomal recessive form

Journal of the Peripheral Nervous System ◽

10.1111/j.1085-9489.2004.009209bi.x ◽

2004 ◽

Vol 9 (2) ◽

pp. 122-123 ◽

Cited By ~ 2

Author(s):

ML Mostacciuolo ◽

E Crestanello ◽

F Boaretto ◽

E Boscolo ◽

M Liguori ◽

...

Keyword(s):

Autosomal Recessive ◽

Motor Neuropathy ◽

Hereditary Motor ◽

Recessive Form ◽

Hereditary Motor Neuropathy

Respiratory insufficiency in a severe autosomal recessive form of musclar dystrophy

Annals of Tropical Paediatrics ◽

10.1080/02724936.1984.11748305 ◽

1984 ◽

Vol 4 (1) ◽

pp. 45-48 ◽

Cited By ~ 4

Author(s):

Mustafa Abdalla M. Salih ◽

Assadour Ekmejian ◽

Mohamed Ibrahim A. Omer

Keyword(s):

Respiratory Insufficiency ◽

Autosomal Recessive ◽

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.31288 ◽

2006 ◽

Vol 140A (14) ◽

pp. 1504-1510 ◽

Cited By ~ 20

Author(s):

Anna Rajab ◽

Seung-Yun Yoo ◽

Aiman Abdulgalil ◽

Salem Kathiri ◽

Riaz Ahmed ◽

...

Keyword(s):

Cerebral Palsy ◽

Mental Retardation ◽

Autosomal Recessive ◽

Spastic Cerebral Palsy ◽

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

An autosomal recessive form of hemimelia in dogs

Veterinary Record ◽

10.1136/vr.110.6.128 ◽

1982 ◽

Vol 110 (6) ◽

pp. 128-129 ◽

Cited By ~ 11

Author(s):

R. Alonso ◽

A. Hernandez ◽

P. Diaz ◽

J. Cantu

Keyword(s):

Autosomal Recessive ◽