Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association. [electronic resource]

By:

Ros-Pérez, Purificación

Contributor(s):

Regidor, Francisco J
Colino, Esmeralda
Martínez-Payo, Cristina
Barroso, Eva
Heath, Karen E

Producer: 20130516Description: 88 p. digitalISSN:

1471-2431

Subject(s):

Achondroplasia -- complications
Genetic Markers
Genetic Testing
Humans
Infant, Newborn
Klinefelter Syndrome -- complications
Male
Nondisjunction, Genetic
Prenatal Diagnosis
Receptor, Fibroblast Growth Factor, Type 3 -- genetics

Online resources:

Available from publisher's website

In: BMC pediatrics vol. 12

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Publication Type: Case Reports; Journal Article

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Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association.

APA

Ros-Pérez P., Regidor F. J., Colino E., Martínez-Payo C., Barroso E. & Heath K. E. (20130516). Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association. : BMC pediatrics.

Chicago

Ros-Pérez Purificación, Regidor Francisco J, Colino Esmeralda, Martínez-Payo Cristina, Barroso Eva and Heath Karen E. 20130516. Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association. : BMC pediatrics.

Harvard

Ros-Pérez P., Regidor F. J., Colino E., Martínez-Payo C., Barroso E. and Heath K. E. (20130516). Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association. : BMC pediatrics.

MLA

Ros-Pérez Purificación, Regidor Francisco J, Colino Esmeralda, Martínez-Payo Cristina, Barroso Eva and Heath Karen E. Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association. : BMC pediatrics. 20130516.

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