Ectodermal dysplasia with corkscrew hairs: observation of probable autosomal dominant tricho-odonto-onychodysplasia with syndactyly

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

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Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

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Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding?

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Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.

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A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.

European journal of medical genetics·2010

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.

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EClinicalMedicine·2026

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Addiction & health·2026

Related Experiment Videos

Ectodermal dysplasia with corkscrew hairs: observation of probable autosomal dominant tricho-odonto-onychodysplasia

Related Concept Videos

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding?

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.

A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.

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Nail disorders in pediatric patients: Part 1. Clinical overview, diagnosis and management of physiological variants, and congenital, hereditary, and infectious etiologies.

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Related Experiment Videos

Ectodermal dysplasia with corkscrew hairs: observation of probable autosomal dominant tricho-odonto-onychodysplasia...

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Ectodermal dysplasia with corkscrew hairs: observation of probable autosomal dominant tricho-odonto-onychodysplasia