Focal Dermal Hypoplasia Due to De Novo Mutation c.1061T>C(p.Leu354Pro) in the PORCN Gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up.

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作者： Rosa Patricia,Arias-Llorente ^[1] ; Cristina,Rodriguez-Dehli ^[2] ; Aranzazu,López-Martínez ^[1] ; Isolina,Riaño-Galán ^[2]

作者单位： a Service of Neonatology, AGCP , Hospital Universitario Central de Asturias , Oviedo , Spain. ^[1] b Service of Pediatrics , Hospital San Agustin , Avilés , Spain. ^[2]

关键词 Goltz syndrome PORCN coloboma iris dermal hypoplasia ectrodactyly fat herniation

主题词酰基转移酶类(Acyltransferases);早期诊断(Early Diagnosis);女(雌)性(Female);局灶性皮肤发育不全(Focal Dermal Hypoplasia);人类(Humans);婴儿, 新生(Infant, Newborn);膜蛋白质类(Membrane Proteins);点突变(Point Mutation);预后(Prognosis)

DOI 10.3109/15513815.2015.1095257

PMID 26470739

发布时间 2017-11-16

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Fetal and pediatric pathology

2015年34卷6期

375-82页

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Focal Dermal Hypoplasia Due to De Novo Mutation c.1061T>C(p.Leu354Pro) in the PORCN Gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up.

Fetal and pediatric pathology

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Fetal and pediatric pathology

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Focal Dermal Hypoplasia Due to De Novo Mutation c.1061T&gt;C(p.Leu354Pro) in the PORCN Gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up.

Fetal and pediatric pathology

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Fetal and pediatric pathology

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Focal Dermal Hypoplasia Due to De Novo Mutation c.1061T>C(p.Leu354Pro) in the PORCN Gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up.