X-linked Opitz syndrome: Novel mutations in theMID1gene and redefinition of the clinical spectrum

2003 ◽  
Vol 120A (2) ◽  
pp. 222-228 ◽  
Author(s):  
Francesca De Falco ◽  
Silvia Cainarca ◽  
Grazia Andolfi ◽  
Rosa Ferrentino ◽  
Caterina Berti ◽  
...  
Keyword(s):  
Clinical Spectrum ◽  
Novel Mutations ◽  
Opitz Syndrome

scholarly journals Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations

1999 ◽  
Vol 7 (8) ◽  
pp. 937-940 ◽  
Author(s):  
D De Brasi ◽  
T Esposito ◽  
M Rossi ◽  
G Parenti ◽  
MP Sperandeo ◽  
...  
Keyword(s):  
Common Mutation ◽  
Novel Mutations ◽  
Opitz Syndrome

scholarly journals Identification of 14 novel mutations inDHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of theDHCR7 mutational spectra in Spain and Italy

2005 ◽  
Vol 25 (4) ◽  
pp. 412-412 ◽  
Author(s):  
M. Witsch-Baumgartner ◽  
P. Clayton ◽  
N. Clusellas ◽  
D. Haas ◽  
R.I. Kelley ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Mutational Spectra ◽  
Opitz Syndrome

scholarly journals CLINICAL SPECTRUM OF PATIENTS WITH RSH/SMITH-LEMLI-OPITZ SYNDROME. •474

1996 ◽  
Vol 39 ◽  
pp. 81-81
Author(s):  
Christopher Cunniff ◽  
Lisa E Kratz ◽  
Ann Moser ◽  
Marvin R Natowicz ◽  
Richard I Kelley
Keyword(s):  
Clinical Spectrum ◽  
Opitz Syndrome ◽  
Spectrum Of Patients

Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome

2002 ◽  
Vol 16 (4) ◽  
pp. 315-318 ◽  
Author(s):  
C. Patrono ◽  
C. Dionisi-Vici ◽  
A. Giannotti ◽  
B. Bembi ◽  
M.C. Digilio ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Opitz Syndrome

Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum

2012 ◽  
Vol 31 (07) ◽  
pp. 224-231 ◽  
Author(s):  
Daojun Hong ◽  
Zhihong Shi ◽  
Wei Zhang ◽  
Zhaoxia Wang ◽  
Yun Yuan
Keyword(s):  
Clinical Spectrum ◽  
Novel Mutations ◽  
Danon Disease ◽  
Lamp2 Gene

scholarly journals Brain Malformations Associated With Knobloch Syndrome—Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations

2014 ◽  
Vol 51 (6) ◽  
pp. 806-813.e8 ◽  
Author(s):  
Ahmet Okay Caglayan ◽  
Jacob F. Baranoski ◽  
Fesih Aktar ◽  
Wengi Han ◽  
Beyhan Tuysuz ◽  
...  
Keyword(s):  
Clinical Spectrum ◽  
Review Of Literature ◽  
Novel Mutations ◽  
Knobloch Syndrome ◽  
Brain Malformations

scholarly journals Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review

2020 ◽  
Vol 11 ◽  
Author(s):  
Su Jin Kim ◽  
Aram Yang ◽  
Ji Sun Park ◽  
Dae Gyu Kwon ◽  
Jeong-Seop Lee ◽  
...  
Keyword(s):  
Literature Review ◽  
Case Reports ◽  
Clinical Spectrum ◽  
Novel Mutations ◽  
Kbg Syndrome

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum

2017 ◽  
Vol 92 (3) ◽  
pp. 342-343 ◽  
Author(s):  
Shahida Moosa ◽  
Bart Loeys ◽  
Janine Altmüller ◽  
Geert Mortier ◽  
Peter Nürnberg ◽  
...  
Keyword(s):  
Clinical Spectrum ◽  
Opitz Syndrome

HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum

Neurology ◽  
2014 ◽  
Vol 83 (19) ◽  
pp. 1726-1732 ◽  
Author(s):  
B. Gess ◽  
M. Auer-Grumbach ◽  
A. Schirmacher ◽  
T. Strom ◽  
M. Zitzelsberger ◽  
...  
Keyword(s):  
Clinical Spectrum ◽  
Novel Mutations ◽  
Hereditary Neuropathies
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