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asphyxiating thoracic dystrophy (145) 145
humans (110) 110
index medicus (101) 101
male (59) 59
female (51) 51
jeune syndrome (49) 49
genetics & heredity (45) 45
cilia (40) 40
pediatrics (37) 37
rib-polydactyly syndrome (35) 35
animals (33) 33
mutation (32) 32
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intraflagellar transport (24) 24
article (23) 23
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cilia - metabolism (22) 22
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ciliopathy (20) 20
bardet-biedl-syndrome (19) 19
genetics (19) 19
infant, newborn (19) 19
intraflagellar transport protein (19) 19
thorax - abnormalities (17) 17
analysis (16) 16
asphyxiating thoracic dysplasia (16) 16
dync2h1 mutations (16) 16
ellis-van creveld syndrome - genetics (16) 16
protein (16) 16
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ellis-van creveld syndrome - diagnosis (14) 14
mice (14) 14
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adult (12) 12
dynein (12) 12
polycystic kidney-disease (12) 12
proteins (12) 12
short rib-polydactyly syndrome - genetics (12) 12
biochemistry & molecular biology (11) 11
cytoplasmic dynein (11) 11
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cilia - genetics (10) 10
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genetic disorders (10) 10
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proteins - genetics (10) 10
sense organs (10) 10
carrier proteins - genetics (9) 9
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cilia - physiology (9) 9
cranioectodermal dysplasia (9) 9
cytoplasmic dyneins - genetics (9) 9
diagnosis, differential (9) 9
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retrograde intraflagellar transport (9) 9
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bone dysplasia (8) 8
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ellis-van creveld syndrome - pathology (8) 8
flagella - metabolism (8) 8
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hedgehog proteins - metabolism (8) 8
homozygote (8) 8
joubert syndrome (8) 8
medicine & public health (8) 8
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nephronophthisis (8) 8
polydactyly (8) 8
primary cilium (8) 8
protein transport (8) 8
signal transduction (8) 8
abnormalities, multiple - genetics (7) 7
base sequence (7) 7
bone and bones - abnormalities (7) 7
chlamydomonas (7) 7
ciliopathies - genetics (7) 7
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Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 5/2013, Volume 172, Issue 5, pp. 613 - 622
Journal Article
Seminars in Pediatric Surgery, ISSN 1055-8586, 2008, Volume 17, Issue 3, pp. 167 - 172
Journal Article
Annals of Plastic Surgery, ISSN 0148-7043, 08/2010, Volume 65, Issue 2, pp. 214 - 218
Jeune syndrome, or asphyxiating thoracic dysplasia, is an autosomal recessive osteochondrodysplasia. Four forms of Jeune syndrome have been proposed: lethal,... 
retinal dystrophy | pectus bar | narrow thorax | chest wall plasty | mild form | jeune syndrome | brachydactyly | asphyxiating thoracic dysplasia (ATD) | SURGERY | EXPANSION | DYSPLASIA | Jeune syndrome | Humans | Reconstructive Surgical Procedures - methods | Abnormalities, Multiple | Thoracic Wall - surgery | Female | Male | Thoracic Wall - abnormalities | Asphyxia - pathology | Child | Syndrome | Siblings
Journal Article
Seminars in Liver Disease, ISSN 0272-8087, 2003, Volume 23, Issue 2, pp. 195 - 200
ABSTRACT Asphyxiating thoracic dystrophy, or Jeune syndrome, is an autosomal recessive skeletal dysplasia with multiorgan involvement. Most patients develop... 
Liver | Asphyxiating thoracic dystrophy | Jeune syndrome | GASTROENTEROLOGY & HEPATOLOGY | liver | asphyxiating thoracic dystrophy | DISEASE | Asphyxia - etiology | Humans | Liver Diseases - pathology | Liver Diseases - complications | Syndrome | Osteochondrodysplasias - complications | Thorax - abnormalities
Journal Article
Neurology, ISSN 0028-3878, 07/2019, Volume 93, Issue 3, pp. e237 - e251
OBJECTIVEIntensive genetic analysis was performed to reveal comprehensive molecular insights into hypothalamic hamartoma (HH). METHODSThirty-eight individuals... 
OFD1 | LOCALIZATION | DEFECTS | NOONAN | PATHWAY | TRAFFICKING | ASPHYXIATING THORACIC DYSTROPHY | SOMATIC MUTATIONS | GLI3 | CLINICAL NEUROLOGY | PRIMARY CILIA
Journal Article