scholarly journals Majewski syndrome (short-rib polydactyly syndrome type II): prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. Case report and literature review

2014 ◽  
pp. n/a-n/a
Author(s):  
Gabriele Tonni ◽  
Marcella Palmisano ◽  
Alessandro Ventura ◽  
Gianpaolo Grisolia ◽  
Ave Maria Baffico ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Literature Review ◽  
Growth Plate ◽  
Syndrome Type ◽  
Type Ii ◽  
Histological Features ◽  
Short Rib Polydactyly Syndrome

scholarly journals Mutation Analysis in Crigler-Najjar Syndrome Type II—Case Report and Literature Review

2011 ◽  
Vol 1 (3) ◽  
pp. 204-206
Author(s):  
Piyush Ranjan ◽  
Sudha Kohli ◽  
Renu Saxena ◽  
Seema Thakur
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Mutation Analysis ◽  
Syndrome Type ◽  
Type Ii

Short Rib-Polydactyly Syndrome Type II (Majewski Syndrome): A Case Report

1984 ◽  
Vol 2 (4) ◽  
pp. 457-467 ◽  
Author(s):  
R. Michael McCormac ◽  
David B. Flannery ◽  
Irene Imakoneczna ◽  
Michael B. Kodroff
Keyword(s):  
Case Report ◽  
Syndrome Type ◽  
Type Ii ◽  
Short Rib Polydactyly Syndrome

P12.09: Short-rib polydactyly syndrome type II: a case report

2014 ◽  
Vol 44 (S1) ◽  
pp. 250-250
Author(s):  
D. Zaki ◽  
D. Dal Soglio ◽  
A. Grignon ◽  
C.E. Jacob ◽  
F. Audibert ◽  
...  
Keyword(s):  
Case Report ◽  
Syndrome Type ◽  
Type Ii ◽  
Short Rib Polydactyly Syndrome

scholarly journals Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

2020 ◽  
Vol 21 ◽  
Author(s):  
Khaled A. Elfert ◽  
David S. Geller ◽  
Carol Nelson-Williams ◽  
Richard P. Lifton ◽  
Hassan Al-Malki ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Late Onset ◽  
Bartter Syndrome ◽  
Homozygous Mutation ◽  
Syndrome Type ◽  
Type Ii
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