Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.

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Pycnodysostosis: Clinicoradiographic Report of a Rare Case Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.Clinical and radiographic features of pycnodysostosis: A case report.

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P2860

Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.

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2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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Pycnodysostosis with novel gen ...... management of a complex case.

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Pycnodysostosis with novel gen ...... management of a complex case.

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Pycnodysostosis with novel gen ...... management of a complex case.

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P1476

Pycnodysostosis with novel gen ...... management of a complex case.

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Ana Medeira

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Teresa Nunes

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P2860

Nasal continuous positive airway pressure use in children with obstructive sleep apnea younger than 2 years of age.

Linking osteopetrosis and pycnodysostosis: regulation of cathepsin K expression by the microphthalmia transcription factor family

Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011

Pharyngeal narrowing as a common feature in pycnodysostosis--a cephalometric study.

Childhood obstructive sleep-disordered breathing: a clinical update and discussion of technological innovations and challenges.

A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin

Pycnodysostosis. A variant form with visceral manifestations.

Skeletal dysplasia with unusual visceral manifestations

An unusual case of pycnodysostosis.

Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy.

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scholarly article

case report

P356

10.1136/BCR-2013-200590

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2013

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Teresa Bandeira

I C Girbal

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2013-09-20T00:00:00Z

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24057333

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3794180

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Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.

about

P2860

P2860

Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.

description

name

type

label

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P1476

P2093

P2860

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P932

P356

P1433

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P31

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P698

P932