PMID- 10441597
OWN - NLM
STAT- MEDLINE
DCOM- 19991004
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 3
DP  - 1999 Sep
TI  - Demonstration of the recurrence of Marfan-like skeletal and cardiovascular
      manifestations due to germline mosaicism for an FBN1 mutation.
PG  - 917-21
FAU - Collod-Beroud, G
AU  - Collod-Beroud G
FAU - Lackmy-Port-Lys, M
AU  - Lackmy-Port-Lys M
FAU - Jondeau, G
AU  - Jondeau G
FAU - Mathieu, M
AU  - Mathieu M
FAU - Maingourd, Y
AU  - Maingourd Y
FAU - Coulon, M
AU  - Coulon M
FAU - Guillotel, M
AU  - Guillotel M
FAU - Junien, C
AU  - Junien C
FAU - Boileau, C
AU  - Boileau C
LA  - eng
PT  - Case Reports
PT  - Letter
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (FBN1 protein, human)
RN  - 0 (Fibrillin-1)
RN  - 0 (Fibrillins)
RN  - 0 (Microfilament Proteins)
SB  - IM
MH  - Adolescent
MH  - Cardiovascular Abnormalities/*genetics
MH  - Child
MH  - Exons/genetics
MH  - Female
MH  - Fibrillin-1
MH  - Fibrillins
MH  - France
MH  - Germ-Line Mutation/*genetics
MH  - Humans
MH  - Male
MH  - Marfan Syndrome/*genetics
MH  - Microfilament Proteins/*genetics
MH  - Mosaicism/*genetics
MH  - Musculoskeletal Abnormalities/*genetics
MH  - Nuclear Family
MH  - Phenotype
MH  - Polymorphism, Single-Stranded Conformational
PMC - PMC1377997
EDAT- 1999/08/12 10:00
MHDA- 2000/03/21 09:00
CRDT- 1999/08/12 10:00
PHST- 1999/08/12 10:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/08/12 10:00 [entrez]
AID - S0002-9297(07)62343-X [pii]
AID - 10.1086/302545 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Sep;65(3):917-21. doi: 10.1086/302545.