Asplenia in two father-son pairs

N. M. Lindor; W. A. Smithson; C. A. Ahumada; V. V. Michels; J. M. Opitz

doi:10.1002/ajmg.1320560104

Asplenia in two father-son pairs

N. M. Lindor, W. A. Smithson, C. A. Ahumada, V. V. Michels, J. M. Opitz

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Abstract

We report on two father-son pairs with isolated nonsyndromal asplenia. This may represent autosomal dominant inheritance of a mutation in a gene involved with spleen development and determination of laterality. The incidence of hereditary isolated asplenia is unknown; therefore, screening for asplenia in first degree relatives of individuals with (poly)asplenia should be considered.

Original language	English (US)
Pages (from-to)	10-11
Number of pages	2
Journal	American journal of medical genetics
Volume	56
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.1320560104
State	Published - 1995

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.1320560104

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abstract = "We report on two father-son pairs with isolated nonsyndromal asplenia. This may represent autosomal dominant inheritance of a mutation in a gene involved with spleen development and determination of laterality. The incidence of hereditary isolated asplenia is unknown; therefore, screening for asplenia in first degree relatives of individuals with (poly)asplenia should be considered.",

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AU - Ahumada, C. A.

AU - Michels, V. V.

AU - Opitz, J. M.

PY - 1995

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Asplenia in two father-son pairs

Abstract

ASJC Scopus subject areas

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