@article {10465,
	title = {[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia].},
	journal = {Arch Argent Pediatr},
	volume = {115},
	year = {2017},
	month = {2017 02 01},
	pages = {e34-e38},
	abstract = {<p>Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed.</p>},
	keywords = {Child, Preschool, Ectodermal Dysplasia 1, Anhidrotic, Edar Receptor, Humans, Male, Mutation, Pedigree},
	issn = {1668-3501},
	doi = {10.5546/aap.2017.e34},
	author = {Callea, Michele and Cammarata-Scalisi, Francisco and Willoughby, Colin E and Giglio, Sabrina R and Sani, Ilaria and Bargiacchi, Sara and Traficante, Giovanna and Bellacchio, Emanuele and Tadini, Gianluca and Yavuz, Izzet and Galeotti, Angela and Clarich, Gabriella}
}
@article {8093,
	title = {Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia.},
	journal = {Leuk Lymphoma},
	year = {2015},
	month = {2015 Dec 24},
	pages = {1-3},
	issn = {1029-2403},
	doi = {10.3109/10428194.2015.1115030},
	author = {Callea, Michele and Bellacchio, Emanuele and Fattori, Fabiana and Bertini, Enrico and Callea, Francesco and Cammarata-Scalisi, Francisco}
}
@article {8086,
	title = {[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].},
	journal = {Arch Argent Pediatr},
	volume = {113},
	year = {2015},
	month = {2015 Dec 1},
	pages = {e341-4},
	abstract = {<p>Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye dis orders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C> T; p.T378M in EDA gene.</p>},
	issn = {1668-3501},
	author = {Callea, Michele and Yavuz, Izzet and Clarich, Gabriella and Cammarata-Scalisi, Francisco}
}
