An autosomal dominant inherited syndrome with congenital stapes ankylosis.

Autosomal dominant congenital laryngomalacia.

Autosomal dominant congenital miosis with megalocornea.

Autosomal dominant congenital Horner's syndrome in a Dutch family.

Persistent stapedial artery with stapes ankylosis.

Piebaldism, an autosomal dominant trait distinct from Waardenburg syndrome.

Isolated congenital stapes ankylosis: surgical results in 32 ears and a review of the literature.

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Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.

Autosomal dominant Fanconi syndrome with early renal failure.

Autosomal dominant inheritance of Klein-Waardenburg syndrome.

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.

Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy.

The autosomal dominant syndrome of progressive optic atrophy and congenital deafness.

Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity.

Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father.

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An autosomal dominantly inherited syndrome of facial asymmetry, esotropia, amblyopia, and submucous cleft palate (Bencze syndrome).

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Familial meralgia paresthetica with an autosomal dominant trait.

A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus.

Dominant inherited tilted disc syndrome and lacquer cracks.

[Retracted] Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy.

Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus.

Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease.

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Autosomal dominant congenital laryngomalacia.

Autosomal dominant congenital miosis with megalocornea.

Autosomal dominant congenital Horner's syndrome in a Dutch family.

Persistent stapedial artery with stapes ankylosis.

Piebaldism, an autosomal dominant trait distinct from Waardenburg syndrome.

Isolated congenital stapes ankylosis: surgical results in 32 ears and a review of the literature.

An autosomal dominant midline cleft syndrome resembling familial holoprosencephaly.

Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.

Autosomal dominant Fanconi syndrome with early renal failure.

Autosomal dominant inheritance of Klein-Waardenburg syndrome.

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Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy.

The autosomal dominant syndrome of progressive optic atrophy and congenital deafness.

Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity.

Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father.

A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.

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Familial hyperproinsulinemia. An autosomal dominant defect.

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