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Article

Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.

European journal of pediatrics - 1 Jul 2010

Inoue Hirosuke, Takada Hidetoshi, Kusuda Takeshi, Goto Takako, Ochiai Masayuki, Kinjo Tadamune, Muneuchi Jun, Takahata Yasushi, Takahashi Naomi, Morio Tomohiro, Kosaki Kenjiro, Hara Toshiro

Abstract excerpt

It is rare that coloboma, heart anomalies, choanal atresia, retarded growth and development, and genital and ear anomalies (CHARGE) syndrome patients have DiGeorge sequence showing severe immunodeficiency due to the defect of the thymus. Although the only treatment to achieve immunological recovery for these patients in countries where thymic transplantation is not ethically approved would be hematopoietic cell...

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Source

Identifiers

PMID: 20052490
DOI: 10.1007/s00431-009-1126-6

Genes

CHD7

Provenance

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Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.PMID 20052490Read ↗

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Complete DiGeorge syndrome associated with CHD7 mutation.Semantic proximity Read ↗

CHARGE syndrome.Semantic proximity Read ↗

CHARGE: an association or a syndrome?Semantic proximity Read ↗

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.Semantic proximity Read ↗

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Generation of a human iPSC line (FDCHi009-A) from a patient with CHARGE syndrome carrying a novel CHD7 mutation (c.2939 T > C).Semantic proximity Read ↗

Acute myeloid leukemia associated with CHARGE syndrome.Semantic proximity Read ↗

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature.Semantic proximity Read ↗

CHARGEd with neural crest defects.Semantic proximity Read ↗

De novo Splice Site Mutation of the CHD7 Gene in a Chinese Patient with Typical CHARGE Syndrome.Semantic proximity Read ↗

Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.Semantic proximity Read ↗

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