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Mulibrey Nanism
Known as:
Mulibrey Nanism [Disease/Finding]
, Nanism, Mulibrey
, Nanism Syndrome, Mulibrey
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An autosomal recessive inherited disorder caused by mutations in the TRIM37 gene. It is characterized by marked growth retardation and abnormalities…
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National Institutes of Health
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Related topics
Related topics
16 relations
Astigmatism
Autosomal recessive inheritance
Congestive heart failure
Dysarthria
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Renal findings in patients with Mulibrey nanism
Johanna Sivunen
,
Susann Karlberg
,
J. Lohi
,
N. Karlberg
,
M. Lipsanen-Nyman
,
H. Jalanko
Pediatric nephrology (Berlin, West)
2017
Corpus ID: 4034316
BackgroundMulibrey nanism (MUL) is a rare inherited disease caused by genetic defects affecting peroxisomal TRIM37 protein. MUL…
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2017
2017
New intragenic rearrangements in non‐Finnish mulibrey nanism
F. Jobic
,
G. Morin
,
+6 authors
G. Jedraszak
American Journal of Medical Genetics. Part A
2017
Corpus ID: 46834309
Prenatal growth is a complex dynamic process controlled by various genetic and environmental factors. Among genetic syndromes…
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2009
2009
Where genetics and pathology meet: mulibrey nanism
F. Hes
,
H. Morreau
Journal of Pathology
2009
Corpus ID: 12508108
Mulibrey nanism is a rare autosomal recessive disorder with prenatal onset growth retardation (nanism) and dysmorphic features…
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2004
2004
Cardiac involvement in Mulibrey nanism: characterization with magnetic resonance imaging.
S. Kivistö
,
M. Lipsanen-Nyman
,
M. Kupari
,
P. Hekali
,
K. Lauerma
Journal of Cardiovascular Magnetic Resonance
2004
Corpus ID: 9239420
Mulibrey nanism (MUL) is an autosomal recessive disorder that is enriched in the Finnish population. Variable degrees of…
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1999
1999
High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23.
P. Paavola
,
K. Avela
,
+8 authors
L. Peltonen
Genome Research
1999
Corpus ID: 2208697
Previously, we assigned the genes for two autosomal recessive disorders, Meckel syndrome (MKS; MIM 249000) and Mulibrey Nanism…
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1994
1994
Peroxisomal functions in Mulibrey nanism
R. Schutgens
,
M. Ryynänen
,
R. Wanders
Journal of Inherited Metabolic Disease
1994
Corpus ID: 23110594
Mulibrey nanism (MN) (McKusick 253250) is a rare autosomal recessive disorder described worldwide, but especially in Finnish…
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1991
1991
A case of congenital hypoplasia of the right external iliac artery.
R. Seghezzi
,
G. Rossi
,
F. Chierichetti
,
M. Lovotti
,
M. Salvini
Journal of Cardiovascular Surgery
1991
Corpus ID: 39662514
A 18 years male had congenital hypoplasia of the right external iliac artery and thrombosis of its narrowest part. Congenital…
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1982
1982
MULIBREY NANISM, AN AUTOSOMAL RECESSIVE SYNDROME WITH OCULAR INVOLVEMENT
A. Tarkkanen
,
C. Raitta
,
J. Perheentupa
Acta ophthalmologica
1982
Corpus ID: 32385490
Mulibrey nanism is a rare autosomal recessive condition characterized by a growth failure of pre‐natal onset and several…
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1981
1981
3-M slender-boned nanism. An intrauterine growth retardation syndrome.
Cantú Jm
,
Diana Carcía-Cruz
,
José Sánchez-Corona
,
R. Fragoso
,
A. Hernández
,
Z. Nazará-Cazorla
A M A Journal of Diseases of Children
1981
Corpus ID: 35488106
Three sisters with 3-M slender-boned nanism are described. The main features were low birth weight, disproportionate dwarfism…
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Review
1975
Review
1975
Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome.
J. Perheentupa
,
S. Autio
,
S. Leisti
,
C. Raitta
,
L. Tuuteri
Birth defects original article series
1975
Corpus ID: 43229969
Mulibrey (muscle, liver, brain, eye) nanism is probably an autosomal recessive condition characterized by progressive growth…
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