A journey towards answers: Bonnie Odgers Meets Dr. John Graham.
Am J Med Genet A
; 185(9): 2627-2629, 2021 09.
Article
em En
| MEDLINE
| ID: mdl-33881201
ABSTRACT
The importance of understanding HIST1H1E Syndrome is sharing our family's personal journey to find a diagnosis for our daughter, Bonnie Odgers. This syndrome has also been referred to as Rahman Syndrome and HIST1H1E Neurodevelopmental Syndrome depending upon the origin of research. Characteristics of HIST1H1E are curved fingers, full cheeks, high forehead, speech impairments and mild to severe intellectual disability. This article reveals the Odgers' family journey towards a diagnosis, the key physicians research through whole exome genetic testing and revealing characteristics of HIST1H1E.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Transtornos do Neurodesenvolvimento
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Transtornos do Crescimento
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Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Female
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Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article