Campomelic dysplasia. Further elucidation of a distinct entity.
about
A clinical and genetic study of campomelic dysplasia.Isolation of a testis-specific cDNA on chromosome 17q from a region adjacent to the breakpoint of t(12;17) observed in a patient with acampomelic campomelic dysplasia and sex reversalAcampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocationOsteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension.Campomelic dysplasia: evidence of autosomal dominant inheritance.Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.A case of campomelic dysplasia without sex reversal.A case of congenital syndromic hydrocephalus: a subtype of 'game-friedman-paradice syndrome'.A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction.Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities.Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology.Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia.The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene.Bronchoscopic evaluation of airway obstruction in campomelic dysplasia.Absent pedicles in campomelic dysplasia.In utero ultrasonographic features of campomelic dysplasia.Congenital bowing of long bones: clinical and experimental study.Campomelic syndrome: concepts of the bowing and shortening in the lower limbs.The new bone biology: pathologic, molecular, and clinical correlatesFetal growth retardation, hydrocephalus, hypoplastic multilobed lungs, and other anomalies in 4 sibsCampomelic Syndrome Associated with Potter's Syndrome and Car diosplenic Syndrome
P2860
Q24517890-BD34F9A0-0AAE-4A6D-9311-0D122C8CAE69Q28288785-2E25E086-1F61-4AF4-A673-B7E42EC60DA9Q28301266-8C1F1161-5D0E-4DE4-9611-0C6A81C37530Q33381860-9E95362F-B3BB-4B64-8B04-54EA95C17654Q33595691-5D1D9C88-12B7-4E64-AEAB-B00ABD3B0693Q33671811-FCDB6883-8B1C-46A8-800D-3AFDCCA0BF84Q34451855-AF32718D-2AF9-4B8D-9320-2C86B22EBF0EQ36583804-E16FD8EB-1F52-4267-8268-985F0DBA11ABQ37315941-420D457E-19EE-4D97-84A5-DB4CDD9B6790Q38720465-418B434A-D665-45EB-A541-9FDD49225A5CQ38735488-C99B6D70-D7DE-410C-A726-15001645458FQ39315699-487DE5C7-03C6-48C9-AD37-C974B23ED943Q40150521-80497DAD-E34F-4BCD-88B5-33B9139C2452Q41029780-32416907-0925-4CD1-9086-DB8377CAF77BQ41313981-9888B731-3F02-4538-8EC5-D8EE5FFB6152Q47781295-3E396033-159D-4EF5-8E87-A36CC42795C2Q52244307-70B5E991-CE6F-4664-B194-467D91E1CA8AQ52262535-7DB42735-A934-4FEA-9238-CEEECF66F106Q54070839-2055E424-47C9-4250-B659-D5F891CABBABQ56334024-4D2D09A0-6AE0-4D64-868E-C1A85EA7E81AQ57386861-6E0A2F2A-6BCB-4693-8FF7-D36B9761515AQ57993656-7C667F7A-0DA2-47B9-8BE3-513F4B9C4F3F
P2860
Campomelic dysplasia. Further elucidation of a distinct entity.
description
1980 nî lūn-bûn
@nan
1980年の論文
@ja
1980年学术文章
@wuu
1980年学术文章
@zh
1980年学术文章
@zh-cn
1980年学术文章
@zh-hans
1980年学术文章
@zh-my
1980年学术文章
@zh-sg
1980年學術文章
@yue
1980年學術文章
@zh-hant
name
Campomelic dysplasia. Further elucidation of a distinct entity.
@en
Campomelic dysplasia. Further elucidation of a distinct entity.
@nl
type
label
Campomelic dysplasia. Further elucidation of a distinct entity.
@en
Campomelic dysplasia. Further elucidation of a distinct entity.
@nl
prefLabel
Campomelic dysplasia. Further elucidation of a distinct entity.
@en
Campomelic dysplasia. Further elucidation of a distinct entity.
@nl
P1476
Campomelic dysplasia. Further elucidation of a distinct entity.
@en
P2093
P304
P356
10.1001/ARCHPEDI.1980.02130150039010
P577
1980-03-01T00:00:00Z