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Majewski Syndrome
Known as:
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly
, SHORT RIB-POLYDACTYLY SYNDROME, TYPE II
, SRTD6
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A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the…
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National Institutes of Health
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Related topics
Related topics
13 relations
Ambiguous Genitalia
Autosomal recessive inheritance
Cleft Palate
Hydrops Fetalis
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Broader (1)
Short Rib-Polydactyly Syndrome
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Preaxial Polydactyly of the Upper Limb Viewed as a Spectrum of Severity of Embryonic Events
Mohammad M. Al-Qattan, MBBS
Annals of Plastic Surgery
2013
Corpus ID: 42534701
AbstractPreaxial polydactyly (PPD) is a common congenital abnormality and its classification varies among geneticists and hand…
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2003
2003
Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia.
M. Digilio
,
B. Marino
,
A. Giannotti
,
B. Dallapiccola
,
J. M. Opitz
Birth defects research. Clinical and molecular…
2003
Corpus ID: 36336254
BACKGROUND RSH/Smith-Lemli-Opitz syndrome is an autosomal recessive syndrome due to an inborn error of cholesterol metabolism and…
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Review
2001
Review
2001
Laurin-Sandrow syndrome with additional associated manifestations.
P. Kantaputra
American journal of medical genetics
2001
Corpus ID: 19943012
A Thai man with Laurin-Sandrow syndrome (LSS, MIM 135750), the ninth reported case, is described. He had an underdeveloped nasal…
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1994
1994
Neuro-glial neurotrophic interaction in the S-100β retarded mutant mouse (Polydactyly Nagoya). II. Co-cultures study
S. Ueda
,
X. Hou
,
P. Whitaker-Azmitia
,
E. Azmitia
Brain Research
1994
Corpus ID: 24737353
Review
1992
Review
1992
Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.
Alain Verloes
,
Yves Gillerot
,
J. Langhendries
,
J. Fryns
,
L. Koulischer
American journal of medical genetics
1992
Corpus ID: 24596814
We report on a case of neonatal hypothalamic hamartoblastoma with holoprosencephaly, Hirschsprung disease, and tetramelic…
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1987
1987
Oro‐facial‐digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases
M. Silengo
,
Bell Gl
,
M. Biagioli
,
Piergiorgio Franceschini
Clinical Genetics
1987
Corpus ID: 5685347
Two patients with the oro‐facial‐digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial…
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Highly Cited
1986
Highly Cited
1986
Teratogenic effect of calcium edetate (CaEDTA) in rats and the protective effect of zinc.
C. Brownie
,
C. Brownie
,
D. Noden
,
L. Krook
,
M. Haluska
,
A. Aronson
Toxicology and Applied Pharmacology
1986
Corpus ID: 5944351
1982
1982
Morphogenesis of genetic preaxial polydactyly, polydactyly nagoya, pdn, in mice.
I. Naruse
,
Y. Kameyama
1982
Corpus ID: 49416481
The limb buds and foot plates ofl'dn mouse embryos were examined with caTtilage-stained cleared specimens, histological sections…
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1980
1980
The susceptibility of inbred strains of hamsters to cadmium-induced embryotoxicity.
T. Gale
,
W. M. Layton
Teratology
1980
Corpus ID: 40511350
Prior-research has involved several aspects of cadmium-induced embryotoxicity in non-inbred hamsters, mice, and rats. This study…
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Review
1977
Review
1977
Limb anomalies in chromosomal aberrations.
R. Pfeiffer
,
R. Santelmann
Birth defects original article series
1977
Corpus ID: 9960422
This survey shows that there are at least 6 autosomal and 2 gonosomal aberrations which may produce specific types of limb…
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