Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology

Gretchen Oswald, Cathleen Lawson, Gerald Raymond, W. Christopher Golden, Nancy Braverman

Research output: Contribution to journalLetter

5 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)3160-3163
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number12
DOIs
StatePublished - Dec 1 2011

Fingerprint

Rhizomelic Chondrodysplasia Punctata
Fatal Outcome
Homozygote
Cytoplasmic and Nuclear Receptors
Respiratory Insufficiency
Newborn Infant
Mutation
Type 1 Rhizomelic chondrodysplasia punctata

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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title = "Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology",
author = "Gretchen Oswald and Cathleen Lawson and Gerald Raymond and Golden, {W. Christopher} and Nancy Braverman",
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pages = "3160--3163",
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Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. / Oswald, Gretchen; Lawson, Cathleen; Raymond, Gerald; Golden, W. Christopher; Braverman, Nancy.

In: American Journal of Medical Genetics, Part A, Vol. 155, No. 12, 01.12.2011, p. 3160-3163.

Research output: Contribution to journalLetter

TY - JOUR

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AU - Oswald, Gretchen

AU - Lawson, Cathleen

AU - Raymond, Gerald

AU - Golden, W. Christopher

AU - Braverman, Nancy

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DO - 10.1002/ajmg.a.34331

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JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

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