Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.
about
GDF6, a novel locus for a spectrum of ocular developmental anomaliesOcular abnormalities in mice lacking the immunoglobulin superfamily member CdoParis-Trousseau syndrome platelets in a child with Jacobsen's syndrome.CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11qPlatelet storage pool deficiency in Jacobsen syndrome.Jacobsen syndrome.Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet AbnormalityThe 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.Endocrine abnormalities in ring chromosome 11: a case report and review of the literatureAutozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.Growth hormone in the nervous system: autocrine or paracrine roles in retinal function?Ocular coloboma: a reassessment in the age of molecular neuroscience.The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature.de novo interstitial deletions at the 11q23.3-q24.2 regionClinical characteristics and surgical decision making for infants with metopic craniosynostosis in conjunction with other congenital anomalies.A case of discordant related abnormal karyotypes from chorionic villi and amniocytes.Giant platelets in a case of deletion 11q24-qter confirmed by fluorescence in situ hybridization.
P2860
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P2860
Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.
description
1996 nî lūn-bûn
@nan
1996 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Jacobsen syndrome: report of a ...... 23q25) and review of 52 cases.
@ast
Jacobsen syndrome: report of a ...... 23q25) and review of 52 cases.
@en
type
label
Jacobsen syndrome: report of a ...... 23q25) and review of 52 cases.
@ast
Jacobsen syndrome: report of a ...... 23q25) and review of 52 cases.
@en
prefLabel
Jacobsen syndrome: report of a ...... 23q25) and review of 52 cases.
@ast
Jacobsen syndrome: report of a ...... 23q25) and review of 52 cases.
@en
P2093
P2860
P356
P1476
Jacobsen syndrome: report of a ...... 23q25) and review of 52 cases.
@en
P2093
Pivnick EK
Tharapel AT
Velagaleti GV
P2860
P304
P356
10.1136/JMG.33.9.772
P407
P577
1996-09-01T00:00:00Z