Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects.
Pediatrics. 2014.
PMID: 25113295
Free PMC article.
Review.
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10
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found by citation matching
A novel autosomal recessive "Huntington's disease-like" neurodegenerative disorder in a Saudi family.
Saudi Med J. 1999.
PMID: 27605280
Search results
Page 1
Shwachman-Diamond syndrome.
Semin Hematol. 2002 Apr;39(2):95-102. doi: 10.1053/shem.2002.31915.
Semin Hematol. 2002.
PMID: 11957191
Review.
Shwachman-Diamond syndrome (SDS), described just under 40 years ago, is a rare, autosomal-recessive disorder usually manifest in infancy and characterized by exocrine pancreatic insufficiency, short stature, and bone marrow dysfunction. ...No unifying pathoge …
Shwachman-Diamond syndrome (SDS), described just under 40 years ago, is a rare, autosomal-recessive disorder usually ma …
Neuroacanthocytosis syndromes.
Orphanet J Rare Dis. 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68.
Orphanet J Rare Dis. 2011.
PMID: 22027213
Free PMC article.
Review.
NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington's …
NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The …
Acro-cardio-facial syndrome.
Orphanet J Rare Dis. 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25.
Orphanet J Rare Dis. 2010.
PMID: 20920258
Free PMC article.
Review.
The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and heart defects. An autosomal recessive pattern of inheritance has been suggested, based on parental consanguinity and diseas …
The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and …
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
Neuromolecular Med. 2006;8(1-2):75-86. doi: 10.1385/nmm:8:1-2:75.
Neuromolecular Med. 2006.
PMID: 16775368
Review.
Autosomal-recessive forms of Charcot-Marie-Tooth (ARCMT) account for less than 10% of the families in the European CMT population but are more frequent in the Mediterranean basin and the Middle East because of more widespread consanguinity. ...
Autosomal-recessive forms of Charcot-Marie-Tooth (ARCMT) account for less than 10% of the families in the European CMT populat …
Gerodermia Osteodysplastica.
Indian J Pediatr. 2004 Dec;71(12):e77-79.
Indian J Pediatr. 2004.
PMID: 15630332
Review.
Gerodermia Osteodysplastica is a rare autosomal recessive connective tissue disorder included in the cutis laxa syndromes. Twenty five cases have been reported in the world literature to date. The authors report the first case from our country, a 13 year old …
Gerodermia Osteodysplastica is a rare autosomal recessive connective tissue disorder included in the cutis laxa syndrom …
Dystonia-plus syndromes.
Eur J Neurol. 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x.
Eur J Neurol. 2010.
PMID: 20590807
Review.
At present, the following disorders are categorized as dystonia-plus syndromes: Dopa-responsive dystonia (DRD) is a mostly pediatric-onset, neurometabolic disorder with two different modes of inheritance: in its autosomal-dominant form, heterozygous mutations …
At present, the following disorders are categorized as dystonia-plus syndromes: Dopa-responsive dystonia (DRD) is a mostly pediatric- …
Autosomal recessive cerebellar ataxias.
Orphanet J Rare Dis. 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47.
Orphanet J Rare Dis. 2006.
PMID: 17112370
Free PMC article.
Review.
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development o …
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both c …
Nijmegen breakage syndrome.
J Med Genet. 1996 Feb;33(2):153-6. doi: 10.1136/jmg.33.2.153.
J Med Genet. 1996.
PMID: 8929954
Free PMC article.
Review.
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. ...
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 an …
[Carasil].
Brain Nerve. 2011 Feb;63(2):99-108.
Brain Nerve. 2011.
PMID: 21301034
Review.
Japanese.
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a single-gene disorder directly affecting the cerebral small blood vessels, that is caused by mutations in the HTRA1 gene encoding HtrA serine peptidase/p …
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a single-gene diso …
Genetics of microphthalmos.
Int Ophthalmol. 1981 Aug;4(1-2):45-65. doi: 10.1007/BF00139580.
Int Ophthalmol. 1981.
PMID: 6795139
Review.
New syndromes are delineated such as the autosomal dominant anophthalmos-microphthalmos-coloboma syndrome, the autosomal dominant microphthalmos, microcephaly, lacunar retinal atrophy syndrome, the autosomal recessive anophthalmos-microphthalmos-colobo …
New syndromes are delineated such as the autosomal dominant anophthalmos-microphthalmos-coloboma syndrome, the autosomal domin …
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