Spontaneous recovery from severe rickets resembling pseudo-vitamin D deficiency rickets

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

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Femoral-facial syndrome--prenatal diagnosis--autosomal dominant inheritance.

American journal of medical genetics·1995

The Robinow (fetal face) syndrome: a continuing puzzle.

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Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome.

American journal of medical genetics·1991

Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome.

American journal of medical genetics·1991

New clinical aspects of hereditary mucoepithelial dysplasia.

American journal of medical genetics·1991

Limb anomalies from evolutionary, developmental, and genetic perspectives.

Birth defects original article series·1996

Multisite neural tube closure in humans.

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Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

Femoral-facial syndrome--prenatal diagnosis--autosomal dominant inheritance.

The Robinow (fetal face) syndrome: a continuing puzzle.

Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome.

Respiratory obstruction and cor pulmonale in the Hallermann-Streiff syndrome.

New clinical aspects of hereditary mucoepithelial dysplasia.

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Spontaneous recovery from severe rickets resembling pseudo-vitamin D deficiency rickets

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