Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders

2016 ◽  
Vol 170 (6) ◽  
pp. 1622-1625 ◽  
Author(s):  
Shubha R. Phadke ◽  
Anjana Kar ◽  
Aneek Das Bhowmik ◽  
Ashwin Dalal
Keyword(s):  
Allelic Disorders

X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus

1994 ◽  
Vol 6 (3) ◽  
pp. 257-262 ◽  
Author(s):  
Pascale Saugier-Veber ◽  
Arnold Munnich ◽  
Dominique Bonneau ◽  
Jean-Michel Rozet ◽  
Martine Le Merrer ◽  
...  
Keyword(s):  
Proteolipid Protein ◽  
Spastic Paraplegia ◽  
Protein Locus ◽  
Pelizaeus Merzbacher Disease ◽  
Allelic Disorders

scholarly journals Mutations in Capillary Morphogenesis Gene-2 Result in the Allelic Disorders Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

2003 ◽  
Vol 73 (4) ◽  
pp. 957-966 ◽  
Author(s):  
Oonagh Dowling ◽  
Analisa Difeo ◽  
Maria C. Ramirez ◽  
Turgut Tukel ◽  
Goutham Narla ◽  
...  
Keyword(s):  
Capillary Morphogenesis ◽  
Infantile Systemic Hyalinosis ◽  
Juvenile Hyaline Fibromatosis ◽  
Allelic Disorders

scholarly journals Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders

2005 ◽  
Vol 83 (3) ◽  
pp. 240-240
Author(s):  
Yaacov Frishberg ◽  
Orit Topaz ◽  
Reuven Bergman ◽  
Doron Behar ◽  
Drora Fisher ◽  
...  
Keyword(s):  
Recurrent Mutation ◽  
Tumoral Calcinosis ◽  
Allelic Disorders

Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI)

2017 ◽  
Vol 173 (9) ◽  
pp. 2439-2441 ◽  
Author(s):  
Mohammad M. Al-Qattan ◽  
Ranad Shaheen ◽  
Fowzan S. Alkuraya
Keyword(s):  
Syndrome Type ◽  
Allelic Disorders

Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders

2017 ◽  
Vol 53 (1) ◽  
pp. 128-138
Author(s):  
O. L. Mironovich ◽  
E. A. Bliznetz ◽  
T. G. Markova ◽  
E. N. Geptner ◽  
M. R. Lalayants ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
Pendred Syndrome ◽  
Allelic Disorders
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