+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

New syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation A third reported case



New syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation A third reported case



Genetics in Medicine 4(3): 193, May-June




Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 035391431

Download citation: RISBibTeXText


Related references

Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation. American Journal of Medical Genetics 61(4): 382-386, 1996

Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation. American Journal of Medical Genetics 70(3): 333-335, 1997

Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases. American Journal of Medical Genetics. Part a 143a(21): 2581-2587, 2007

Three mildly retarded siblings with congenital cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature: a new syndrome?. Clinical Dysmorphology 4(4): 283-288, 1995

Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome?. Clinical Dysmorphology 13(3): 173-177, 2004

Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies. American Journal of Medical Genetics 51(4): 591-597, 1994

Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome?. American Journal of Medical Genetics. Part a 121a(3): 271-276, 2003

X-linked mental retardation syndrome with characteristic coarse facial appearance, brachydactyly, and short stature maps to proximal Xq. American Journal of Medical Genetics 85(3): 230-235, July 30, 1999

A syndrome of short stature, mental retardation, facial dysmorphism, short webbed neck, skin changes and congenital heart disease. Clinical Dysmorphology 5(4): 321-327, 1996

A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency. American Journal of Medical Genetics 28(4): 965-970, 1987

Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome. American Journal of Medical Genetics 31(4): 741-751, 1988

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. Human Mutation 35(11): 1285-1289, 2015

A new autosomal recessive syndrome with congenital cataract, short stature, and mental retardation. IOVS 41(4): S31, March 15, 2000

A syndrome of aplastic anemia, dysmorphic facial features, short stature, mental retardation and acquired total alopecia. Genetics in Medicine 5(3): 224, May-June, 2003

Short stature, moderate mental retardation, hyperactivity, facial dysmorphism, skeletal abnormalities, and exaggerated ketosis: A new syndrome. Clinical Genetics 50(5): 403-406, 1996