Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency.

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第一作者： Adalgisa,Cordisco

第一单位： Division of Prenatal Diagnosis, Azienda USL Toscana Centro, San Giovanni di Dio Hospital, Firenze, Italy.

作者： Adalgisa,Cordisco ^[1] ; Virginia,Lozza ^[1] ; Chiara,Di Marco ^[2] ; Antonella,Cecconi ^[2] ; Elisa,Pisaneschi ^[3] ; Samantha Federica,Berti ^[4] ; Laura,Adamo ^[1] ; Ilaria,Lori ^[5] ; Gilda,Belli ^[5] ; Beatrice,Gambi ^[5]

作者单位： Division of Prenatal Diagnosis, Azienda USL Toscana Centro, San Giovanni di Dio Hospital, Firenze, Italy. ^[1] Division of Medical Genetics, Azienda USL Toscana Centro, Santa Maria Nuova Hospital, Firenze, Italy. ^[2] Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital and Research Institute, IRCCS, Roma, Italy. ^[3] Division of Pediatric Dermatology, Azienda USL Toscana Centro, San Giovanni di Dio Hospital, Firenze, Italy. ^[4] Division of Neonatology and Neonatal Intensive Care Unit, Azienda USL Toscana Centro, San Giovanni di Dio Hospital, Firenze, Italy. ^[5]

关键词 TGM1 mutation autosomal recessive congenital ichthyosis collodion membrane fetal ectropion prenatal diagnosis

主题词人类(Humans);转谷酰胺酶(Transglutaminases);女(雌)性(Female);妊娠(Pregnancy);超声检查, 产前(Ultrasonography, Prenatal);婴儿, 新生(Infant, Newborn);鳞癣, 板层状(Ichthyosis, Lamellar);成年人(Adult);基因, 隐性(Genes, Recessive)

DOI 10.1111/pde.15506

PMID 38156659

发布时间 2024-06-03

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Pediatric dermatology

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Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency.

Pediatric dermatology

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Pediatric dermatology

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Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency.

Pediatric dermatology

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Pediatric dermatology

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