Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes

British Journal of Dermatology ◽

10.1111/bjd.17839 ◽

2019 ◽

Vol 181 (3) ◽

pp. 618-620

Author(s):

M. Zamiri ◽

N.J. Wilson ◽

E.A. O'Toole ◽

F.J.D. Smith

Keyword(s):

Palmoplantar Keratoderma ◽

Novel Mutations

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Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability

Acta Dermato Venereologica ◽

10.2340/00015555-2304 ◽

2016 ◽

Vol 96 (4) ◽

pp. 468-472 ◽

Author(s):

K Giehl ◽

T Herzinger ◽

H Wolff ◽

M Sárdy ◽

T Braunmühl ◽

...

Keyword(s):

Phenotypic Variability ◽

Palmoplantar Keratoderma ◽

Novel Mutations

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Two Cases of Primarily Palmoplantar Keratoderma Associated with Novel Mutations in Keratin 1

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.2002.00186.x ◽

2002 ◽

Vol 119 (4) ◽

pp. 966-971 ◽

Author(s):

Ana Terron-Kwiatkowski ◽

David J. Atherton ◽

W.H. Irwin McLean ◽

Alan D. Irvine ◽

Amy S. Paller ◽

...

Keyword(s):

Palmoplantar Keratoderma ◽

Novel Mutations ◽

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PIGO deficiency: palmoplantar keratoderma and novel mutations

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-017-0654-9 ◽

2017 ◽

Vol 12 (1) ◽

Author(s):

Marie-Anne Morren ◽

◽

Jaak Jaeken ◽

Gepke Visser ◽

Isabelle Salles ◽

...

Keyword(s):

Palmoplantar Keratoderma ◽

Novel Mutations

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Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families

Human Molecular Genetics ◽

10.1093/hmg/4.10.1875 ◽

1995 ◽

Vol 4 (10) ◽

pp. 1875-1881 ◽

Author(s):

M.K. Shamsher ◽

H.A. Navsaria ◽

H.P. Stevens ◽

R.C. Ratnavel ◽

P.E. Purkis ◽

...

Keyword(s):

Palmoplantar Keratoderma ◽

Novel Mutations ◽

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Novel mutations inDSG1causing striate palmoplantar keratoderma

Clinical and Experimental Dermatology ◽

10.1111/j.1365-2230.2008.02733.x ◽

2009 ◽

Vol 34 (2) ◽

pp. 224-228 ◽

Author(s):

D. Hershkovitz ◽

J. Lugassy ◽

M. Indelman ◽

R. Bergman ◽

E. Sprecher

Keyword(s):

Palmoplantar Keratoderma ◽

Novel Mutations

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Two Novel Mutations on Chromosome 16 Linked to Autism

Pediatric News ◽

10.1016/s0031-398x(08)70071-7 ◽

2008 ◽

Vol 42 (2) ◽

pp. 33

Author(s):

MARY ANN MOON

Keyword(s):

Chromosome 16 ◽

Novel Mutations

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Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas

Archives of Dermatology ◽

10.1001/archderm.132.6.640 ◽

1996 ◽

Vol 132 (6) ◽

pp. 640-651 ◽

Author(s):

H. P. Stevens

Keyword(s):

Ectodermal Dysplasia ◽

Literature Survey ◽

Palmoplantar Keratoderma ◽

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Two novel mutations of RUNX2 gene in two sporadic cleidocranial dysplasia patients

Bone Abstracts ◽

10.1530/boneabs.5.p453 ◽

2016 ◽

Author(s):

Cong Zhang ◽

Yan Jiang ◽

Xiaoping Xing ◽

Mei Li ◽

Ou Wang ◽

...

Keyword(s):

Cleidocranial Dysplasia ◽

Novel Mutations

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A Case of Aquagenic Palmoplantar Keratoderma.

Nishi Nihon Hifuka ◽

10.2336/nishinihonhifu.64.693 ◽

2002 ◽

Vol 64 (6) ◽

pp. 693-697 ◽

Author(s):

Satoshi FUKUSHIMA ◽

Mika KINOSHITA ◽

Junko HIGO ◽

Masato KIDOU ◽

Fukiko AMANO ◽

...

Keyword(s):

Palmoplantar Keratoderma

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A Case of Multiple Eccrine Syringofibroadenoma with Palmoplantar Keratoderma

Nishi Nihon Hifuka ◽

10.2336/nishinihonhifu.80.522 ◽

2018 ◽

Vol 80 (6) ◽

pp. 522-525

Author(s):

Seisho SATO ◽

Takahito CHIBA ◽

Hiromaro KIRYU ◽

Masutaka FURUE

Keyword(s):

Palmoplantar Keratoderma

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