The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1

Two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation

Marco Castori, Silvia Morlino, Francesca Clementina Radio, Carmelilia De Bernardo, Paola Grammatico

Research output: Contribution to journalLetter

2 Citations (Scopus)
Original languageEnglish
Pages (from-to)2675-2677
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number10
DOIs
Publication statusPublished - Oct 2013

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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title = "The {"}old theme{"} of variability versus transitory phenotypes in thanatophoric dysplasia type 1: Two 19-week-old fetuses with ({"}San Diego{"} variant) and without ragged metaphyses due to the same FGFR3 mutation",
author = "Marco Castori and Silvia Morlino and Radio, {Francesca Clementina} and {De Bernardo}, Carmelilia and Paola Grammatico",
year = "2013",
month = "10",
doi = "10.1002/ajmg.a.36131",
language = "English",
volume = "161",
pages = "2675--2677",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "10",

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T1 - The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1

T2 - Two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation

AU - Castori, Marco

AU - Morlino, Silvia

AU - Radio, Francesca Clementina

AU - De Bernardo, Carmelilia

AU - Grammatico, Paola

PY - 2013/10

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U2 - 10.1002/ajmg.a.36131

DO - 10.1002/ajmg.a.36131

M3 - Letter

VL - 161

SP - 2675

EP - 2677

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 10

ER -