Literature DB >> 4283755

Tricho-rhino-phalangeal dysplasia. Report of a kindred.

R K Beals.   

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Year:  1973        PMID： 4283755

Source DB:  PubMed          Journal:  J Bone Joint Surg Am        ISSN： 0021-9355            Impact factor:   5.284


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  5 in total

1.  Characteristics of patients with congenital clasped thumb: a prospective study of 40 patients with the results of treatment.

Authors:  Ahmed El-Naggar; Mohamad Hegazy; Atef Hanna; Yehia Tarraf; Samia Temtamy
Journal:  J Child Orthop       Date:  2007-10-17       Impact factor: 1.548

2.  Partial trisomy of distal 8q derived from mother with mosaic 8q23.3----24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I.

Authors:  K Naritomi; K Hirayama
Journal:  Hum Genet       Date:  1989-05       Impact factor: 4.132

3.  Trichorhinophalangeal syndrome type I and systemic lupus erythematosus with complement C4A homozygous null alleles in the same family.

Authors:  S R Dahlqvist; B Lundström; G Holmgren
Journal:  Ann Rheum Dis       Date:  1989-09       Impact factor: 19.103

4.  Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

Authors:  Carole Corsini; Martin Gencik; Marjolaine Willems; Eva Decker; Elodie Sanchez; Jacques Puechberty; Anouck Schneider; Manon Girard; Patrick Edery; Patricia Bretonnes; Jérôme Cottalorda; Geneviève Lefort; Claire Jeandel; Pierre Sarda; David Genevieve
Journal:  Eur J Hum Genet       Date:  2013-04-10       Impact factor: 4.246

5.  Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene.

Authors:  Catarina Dias; Lara Isidoro; Mafalda Santos; Helena Santos; Jorge Sales Marques
Journal:  Case Rep Genet       Date:  2013-04-17
  5 in total

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