Genome sequencing identifies three molecular diagnoses including a mosaic variant in the <i>COL2A1</i> gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.

Muirhead, Kayla J; Clause, Amanda R; Schlachetzki, Zinayida; Dubbs, Holly; Perry, Denise L; Hagelstrom, R Tanner; Taft, Ryan J; Vanderver, Adeline

Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.

Muirhead, Kayla J; Clause, Amanda R; Schlachetzki, Zinayida; Dubbs, Holly; Perry, Denise L; Hagelstrom, R Tanner; Taft, Ryan J; Vanderver, Adeline.

Afiliação

Muirhead KJ; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Clause AR; Illumina Clinical Services Laboratory, Illumina Inc., San Diego, California 92122, USA.
Schlachetzki Z; Illumina Clinical Services Laboratory, Illumina Inc., San Diego, California 92122, USA.
Dubbs H; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Perry DL; Illumina Clinical Services Laboratory, Illumina Inc., San Diego, California 92122, USA.
Hagelstrom RT; Illumina Clinical Services Laboratory, Illumina Inc., San Diego, California 92122, USA.
Taft RJ; Illumina Clinical Services Laboratory, Illumina Inc., San Diego, California 92122, USA.
Vanderver A; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

Cold Spring Harb Mol Case Stud ; 7(6)2021 12.

Article em En | MEDLINE | ID: mdl-34737199

Assuntos

Deficiência Intelectual; Deformidades Congênitas dos Membros; Microcefalia; Fístula Traqueoesofágica; Colágeno Tipo II; Pálpebras/anormalidades; Humanos

Palavras-chave

abnormal CNS myelination; aggressive behavior; bilateral single transverse palmar creases; central hypotonia; cerebral hypomyelination; clinodactyly of the 5th finger; failure to thrive in infancy; malar flattening; microcephaly; recurrent otitis media; short chin; tapered finger

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fístula Traqueoesofágica / Deformidades Congênitas dos Membros / Deficiência Intelectual / Microcefalia Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google