Literature DB >> 14252683

KERATOSIS PALMO-PLANTARIS CONGENITA, WITH PERIODONTOSIS, ARACHNODACTYLY AND A PECULIAR DEFORMITY OF THE TERMINAL PHALANGES.

S HAIM, J MUNK.   

Abstract

Keywords:  ABNORMALITIES; ADOLESCENCE; ARACHNODACTYLY; CHILD; FINGERS; FOOT DISEASES; GENETICS, HUMAN; HAND DEFORMITIES; HAND DERMATOSES; INDIA; KERATOSIS; PERIODONTAL DISEASES; RADIOGRAPHY

Mesh：

Year:  1965        PMID： 14252683     DOI： 10.1111/j.1365-2133.1965.tb14565.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  10 in total

1.  Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.

Authors:  T C Hart; P S Hart; D W Bowden; M D Michalec; S A Callison; S J Walker; Y Zhang; E Firatli
Journal:  J Med Genet       Date:  1999-12       Impact factor: 6.318

2.  Papillon-lefevre syndrome.

Authors:  Mashkoor Ahmad; Iffat Hassan; Qazi Masood
Journal:  J Dermatol Case Rep       Date:  2009-12-30

3.  Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.

Authors:  P S Hart; Y Zhang; E Firatli; C Uygur; M Lotfazar; M D Michalec; J J Marks; X Lu; B J Coates; W K Seow; R Marshall; D Williams; J B Reed; J T Wright; T C Hart
Journal:  J Med Genet       Date:  2000-12       Impact factor: 6.318

4.  Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-Lefèvre Syndrome?

Authors:  Mostafa Ibrahim Mostafa; Maha Rashed Abouzaid; Manal Micheal Thomas; Ghada Yousef El-Kamah
Journal:  J Pediatr Genet       Date:  2017-05-02

5.  Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C.

Authors:  T C Hart; P S Hart; M D Michalec; Y Zhang; E Firatli; T E Van Dyke; A Stabholz; A Zlotogorski; L Shapira; W A Soskolne; A Zlorogorski
Journal:  J Med Genet       Date:  2000-02       Impact factor: 6.318

6.  Periodontal manifestations in a patient with haim-munk syndrome.

Authors:  Kamile Erciyas; Serhat Inaloz; A Fuat Erciyas
Journal:  Eur J Dent       Date:  2010-07

Review 7.  The Papillon-Lefèvre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature.

Authors:  E Haneke
Journal:  Hum Genet       Date:  1979-09-02       Impact factor: 4.132

8.  Papillon-Lefevre syndrome: A report of two cases.

Authors:  Varsha J Rathod; Nilesh V Joshi
Journal:  J Indian Soc Periodontol       Date:  2010-10

9.  Haim-Munk syndrome.

Authors:  Priyanka Pahwa; Arundeep K Lamba; Farrukh Faraz; Shruti Tandon
Journal:  J Indian Soc Periodontol       Date:  2010-07

10.  Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report.

Authors:  Stéphane Echaubard; Céline Pebrel-Richard; Aurélie Chausset; Jean-Louis Kemeny; Etienne Merlin; Fanny Laffargue
Journal:  Pediatr Rheumatol Online J       Date:  2022-07-30       Impact factor: 3.413
  10 in total

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