American Journal of Medical Genetics Part A
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1552-4833, 1552-4825
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects

2022 ◽  
Author(s):  
Gerarda Cappuccio ◽  
Nicola Brunetti‐Pierri ◽  
Paul Clift ◽  
Christopher Learn ◽  
John C. Dykes ◽  
...  
Keyword(s):  
Neural Crest ◽  
Tetralogy Of Fallot ◽  
Myhre Syndrome

Ehlers‐Danlos /myopathy overlap syndrome caused by a large de novo deletion in COL12A1

2022 ◽  
Author(s):  
Sandra Coppens ◽  
Laurence Desmyter ◽  
Manuel Koch ◽  
Semra Özcelik ◽  
Emily O'Heir ◽  
...  
Keyword(s):  
De Novo ◽  
Overlap Syndrome

The p. Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant

2022 ◽  
Author(s):  
Yurie Ogura ◽  
Tomoko Uehara ◽  
Kota Ujibe ◽  
Hiroshi Yoshihashi ◽  
Mamiko Yamada ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Missense Variant

The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry

2022 ◽  
Author(s):  
Taccyanna M. Ali ◽  
Bianca D. W. Linnenkamp ◽  
Guilherme L. Yamamoto ◽  
Rachel S. Honjo ◽  
Hamilton Cabral de Menezes Filho ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Start Site ◽  
Translation Start Site ◽  
Translation Start
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