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pro vyhledávání: '"E. Melissa Perez-Garcia"'
Publikováno v:
AACE Clinical Case Reports, Vol 8, Iss 2, Pp 89-92 (2022)
Background/Objective: Variants in PAPSS2 (3′-phosphoadenosine 5′-phosphosulfate synthetase 2) present with varying degrees of brachyolmia (short trunk, platyspondyly, mild long-bone abnormalities). Our objective is to present the phenotype of mal
Externí odkaz:
https://doaj.org/article/13438cd75537443a8f144538a07eac59
Publikováno v:
AACE Clinical Case Reports. 8:89-92
Background Variants in PAPSS2 (3’-PhosphoAdenosine 5’-Phosphosulphate Synthetase 2) present with varying degrees of brachyolmia (short trunk, platyspondyly, mild long bone abnormalities). Our objective is to present the phenotype of male and fema
Autor:
Sze May Ng, E. Melissa Perez‐Garcia, Soren Harnois-Leblanc, Lauren McClure Yauch, Brynn E. Marks, Peerzada Ovais Ahmad, Sara Adhami, Steve Vassili Missambou Mandilou, Sarah Ehtisham
Publikováno v:
Pediatric Diabetes. 22:834-838