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Ichthyosis, X-Linked
Known as:
ssdd
, X-linked ichthyosis (STS, SSDD)
, x linked ichthyosis
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Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is…
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National Institutes of Health
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Related topics
Related topics
25 relations
Achard-Thiers syndrome
Cryptorchidism
Ichthyoses
In Blood
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Broader (4)
Adrenogenital Syndrome
Congenital Abnormality
Congenital ichthyosis
congenital deficiency
Narrower (1)
Steroid Sulfatase Deficiency Disease
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family
Yan Ding
,
J. Wang
,
J. Qiao
,
X. Mao
,
S. Cai
British Journal of Dermatology
2010
Corpus ID: 205260422
available in a capsule preparation which contains gelatine as a constituent. While it does not contain ethanol it does contain…
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2004
2004
Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis
I. Anton‐Lamprecht
,
M. Hofbauer
Humangenetik
2004
Corpus ID: 9056043
SummaryIn autosomal dominant ichthyosis vularis ultrastructural studies have revealed a severe disturbance of keratohyalin…
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2001
2001
IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia.
H. Bibas-Bonet
,
R. Fauze
,
M. C. Boente
,
A. M. Coronel
,
R. Asial
Pediatric Neurology
2001
Corpus ID: 30427182
1993
1993
Evidence against keratin gene mutations in a family with ichthyosis hystrix Curth-Macklin.
J. Bonifas
,
J. Bare
,
M. Chen
,
A. Ranki
,
K. M. Neimi
,
E. Epstein
Journal of Investigative Dermatology
1993
Corpus ID: 33508407
Ichthyosis hystrix Curth-Macklin is a rare autosomal dominant disease characterized clinically by hyperkeratosis and…
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1993
1993
Cluster synthesis. XLI: New platinum-ruthenium cluster complexes from the reaction of PhC≡CPh with Pt2Ru4(CO)18. Synthesis and structural characterizations of Pt2Ru3(CO)8(μ3-η2-PhC2Ph)2(μ4-η2-PhC2Ph…
R. D. Adams
,
Wengan Wu
1993
Corpus ID: 99272021
1992
1992
Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation
H. Traupe
,
D. Müller
,
+4 authors
H. Ropers
Human Genetics
1992
Corpus ID: 22305617
SummaryHomology with the mouse bare patches mutant suggests that the gene for the X-linked dominant chondrodysplasia punctata…
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1991
1991
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.
Andrea Ballabio
,
M. Zollo
,
+5 authors
Pietro Strisciuglio
American journal of medical genetics
1991
Corpus ID: 11240918
We observed a boy with short stature, chondrodysplasia punctata, ichthyosis, and a terminal deletion of Xp. Steroid sulfatase…
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1987
1987
PIBI(D)S syndrome--trichothiodystrophy with xeroderma pigmentosum (group D) mutation.
A. Rebora
,
F. Crovato
Journal of American Academy of Dermatology
1987
Corpus ID: 4864380
Review
1983
Review
1983
Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism
H. Traupe
,
R. Happle
European Journal of Pediatrics
1983
Corpus ID: 20485815
When boys affected with steroid sulfatase deficiency are delivered, the lack of the enzyme in the placenta may cause birth…
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1975
1975
Transition metalcarbon bonds : XLI. Internal metallation reactions of palladium(II)-t-butyldibenzylphosphine and —benzyldi-t-butylphosphine complexes☆
B. Shaw
,
Margaret M. Truelock
1975
Corpus ID: 93728212
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