Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression.

Brault, Jennifer; Walsh, Laurence; Vance, Gail H; Weaver, David D

Brault, Jennifer; Walsh, Laurence; Vance, Gail H; Weaver, David D.

Afiliación

Brault J; Department of Pediatrics, Division of Pediatric Neurology, Vanderbilt University School of Medicine, Nashville, Tennessee, United States.
Walsh L; Department of Pediatrics, Division of Medical Genetic and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee, United States.
Vance GH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, United States.
Weaver DD; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, United States.

J Pediatr Genet ; 10(3): 222-229, 2021 Sep.

Article en En | MEDLINE | ID: mdl-34504726

Palabras clave

Klinefelter syndrome; X-linked ichthyosis; interstitial Xp22.3 deletion; maternal nondisjunction; status epilepticus; stroke; uniparental disomy

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Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: J Pediatr Genet Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo

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XML

PubMed Links

Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: J Pediatr Genet Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos