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Abstract 69: A novel variant of MTHFR homozygous mutation causing hyperhomocystinemia in a case presenting as tall stature

Background: Tall stature is an important challenge in clinical practice. Case Report: We report case 2 brothers, Elder one 17-year-old boy presented with tall stature and mental retardation; his height was 178 cm (90 centile) with MPH of 164 (10 centile). Upper segment to lower segment rati of 0.85....

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Detalles Bibliográficos
Autores principales: Pande, Arunkumar R, Jha, Ashish
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067721/
http://dx.doi.org/10.4103/2230-8210.342186

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