An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Krüppel-like Factor 1 mutations.

Lee, Helena H L; Mak, Annisa S L; Kou, K O; Poon, C F; Wong, W S; Chiu, K H; Au, Patrick K C; Chan, Kelvin Y K; Kan, Anita S Y; Tang, Mary H Y; Leung, K Y

Lee, Helena H L; Mak, Annisa S L; Kou, K O; Poon, C F; Wong, W S; Chiu, K H; Au, Patrick K C; Chan, Kelvin Y K; Kan, Anita S Y; Tang, Mary H Y; Leung, K Y.

Afiliação

Lee HH; a Department of Obstetrics and Gynaecology , Queen Elizabeth Hospital , Hong Kong SAR , People's Republic of China.
Mak AS; a Department of Obstetrics and Gynaecology , Queen Elizabeth Hospital , Hong Kong SAR , People's Republic of China.
Kou KO; a Department of Obstetrics and Gynaecology , Queen Elizabeth Hospital , Hong Kong SAR , People's Republic of China.
Poon CF; a Department of Obstetrics and Gynaecology , Queen Elizabeth Hospital , Hong Kong SAR , People's Republic of China.
Wong WS; b Department of Clinical Pathology , Queen Elizabeth Hospital , Hong Kong SAR , People's Republic of China.
Chiu KH; c Department of Paediatrics , Queen Elizabeth Hospital , Hong Kong SAR , People's Republic of China.
Au PK; d Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital , The University of Hong Kong , Hong Kong SAR , People's Republic of China.
Chan KY; d Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital , The University of Hong Kong , Hong Kong SAR , People's Republic of China.
Kan AS; d Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital , The University of Hong Kong , Hong Kong SAR , People's Republic of China.
Tang MH; d Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital , The University of Hong Kong , Hong Kong SAR , People's Republic of China.
Leung KY; a Department of Obstetrics and Gynaecology , Queen Elizabeth Hospital , Hong Kong SAR , People's Republic of China.

Hemoglobin ; 40(6): 431-434, 2016 Nov.

Article em En | MEDLINE | ID: mdl-28361594

Assuntos

Anemia Diseritropoética Congênita/diagnóstico; Anemia Diseritropoética Congênita/genética; Heterozigoto; Hidropisia Fetal/genética; Fatores de Transcrição Kruppel-Like/genética; Mutação; Adulto; Anemia Diseritropoética Congênita/etiologia; Anemia Diseritropoética Congênita/terapia; Transfusão de Sangue Intrauterina; Exame de Medula Óssea; Cordocentese; Feminino; Humanos; Hidropisia Fetal/diagnóstico; Hidropisia Fetal/etiologia; Hidropisia Fetal/terapia; Lactente; Masculino; Gravidez; Diagnóstico Pré-Natal

Palavras-chave

Congenital dyserythropoietic anemia; Krüppel-like factor 1 (KLF1) gene mutations; fetal anemia; hydrops fetalis; intrauterine transfusion

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hidropisia Fetal / Fatores de Transcrição Kruppel-Like / Heterozigoto / Anemia Diseritropoética Congênita / Mutação Tipo de estudo: Diagnostic_studies / Etiology_studies / Risk_factors_studies Limite: Adult / Female / Humans / Infant / Male / Pregnancy Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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