A familial case of pigmented paravenous retinochoroidal atrophy with asymmetrical fundus manifestations

2005 ◽  
Vol 244 (7) ◽  
pp. 874-877 ◽  
Author(s):  
Ryo Obata ◽  
Yasuo Yanagi ◽  
Aya Iriyama ◽  
Yasuhiro Tamaki
Keyword(s):  
Familial Case ◽  
Pigmented Paravenous Retinochoroidal Atrophy

Pseudoatrophoderma colli. A familial case

1980 ◽  
Vol 116 (10) ◽  
pp. 1181-1182 ◽  
Author(s):  
Y. C. Kauh
Keyword(s):  
Familial Case

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

2013 ◽  
Author(s):  
Ponti Emanuela ◽  
Mihalich Alessandra ◽  
Broggi Francesca ◽  
Maria Di Blasio Anna ◽  
Luisa Bianchi Maria
Keyword(s):  
Osteogenesis Imperfecta ◽  
Familial Case ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Familial case of SDHB mutation presenting as a macroprolactinoma

2017 ◽  
Author(s):  
Edouard Mills ◽  
Pratibha Machenahalli ◽  
Ali Naqvi ◽  
Jeannie Todd
Keyword(s):  
Familial Case ◽  
Sdhb Mutation

A familial case of alopecia areata.

1986 ◽  
Vol 48 (5) ◽  
pp. 883-886
Author(s):  
Tsutomu HIRAMOTO ◽  
Yasuhiro YAMANE ◽  
Yasuo KITAJIMA ◽  
Hideo YAOITA
Keyword(s):  
Alopecia Areata ◽  
Familial Case

A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion

2021 ◽  
Author(s):  
Noha Musa ◽  
Mohamed A. Elmonem ◽  
Christian Beetz ◽  
Mona Hafez ◽  
Mona Hassan ◽  
...  
Keyword(s):  
Case Reports ◽  
Pathogenic Variant ◽  
Familial Case

A novel H208DTP63mutation in a familial case of ectrodactyly–ectodermal dysplasia–cleft lip/palate syndrome without clefting

2009 ◽  
Vol 34 (8) ◽  
pp. e726-e728 ◽  
Author(s):  
L. Sorasio ◽  
E. Biamino ◽  
E. Garelli ◽  
G. B. Ferrero ◽  
M. C. Silengo
Keyword(s):  
Cleft Lip ◽  
Familial Case ◽  
Cleft Lip Palate

A Familial Case of Trichorhinophalangeal Syndrome Type I

2009 ◽  
Vol 26 (2) ◽  
pp. 171-175 ◽  
Author(s):  
Mario Vaccaro ◽  
Fabrizio Guarneri ◽  
Olga Barbuzza ◽  
Michele Gaeta ◽  
Claudio Guarneri
Keyword(s):  
Familial Case ◽  
Type I ◽  
Syndrome Type ◽  
Trichorhinophalangeal Syndrome
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