Article
Homozygous truncating PTPRF mutation causes athelia.
Human genetics - 1 Aug 2014
Borck Guntram, de Vries Liat, Wu Hsin-Jung, Smirin-Yosef Pola, Nürnberg Gudrun, Lagovsky Irina, Ishida Luis Henrique, Thierry Patrick, Wieczorek Dagmar, Nürnberg Peter, Foley John, Kubisch Christian, Basel-Vanagaite Lina
Abstract excerpt
Athelia is a very rare entity that is defined by the absence of the nipple-areola complex. It can affect either sex and is mostly part of syndromes including other congenital or ectodermal anomalies, such as limb-mammary syndrome, scalp-ear-nipple syndrome, or ectodermal dysplasias. Here, we report on three children from two branches of an extended consanguineous Israeli Arab family, a girl and two boys, who...
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