✦ LIBER ✦

Mixed clefting type in Rapp-Hodgkin syndrome

✍ Scribed by Neilson, Derek E. ;Brunger, Jeanne W. ;Heeger, Shauna ;Bamshad, Michael ;Robin, Nathaniel H.

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 111 KB
Volume: 108
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.10165

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Ectodermal dysplasia, Rapp-Hodgkin type

Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child

✍ Moerman, Philippe; Fryns, Jean-Pierre 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB

W e describe a mother with manifestations most consistent with the Rapp-Hodgkin type of ectodermal dysplasia and her malformed newborn son with ectrodactyly, ectodermal dysplasia, cleft palate, and bilateral cystic and obstructive ureteroceles with hydroureters and cystic renal dysplasia as describe

Chronic lymphocytic leukemia supervening

Chronic lymphocytic leukemia supervening in non-Hodgkin's lymphoma (diffuse, mixed-cell type)

✍ Yasuda, Norimasa; Ohmori, Sei-Ichi; Usui, Tadao 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 476 KB 👁 2 views

administered to reduce the drug's cost, remains to be determined. This case demonstrates that a short-term regimen of erythropoietin and iron supplementation may allow high-dose chemotherapy to be offered to those individuals unwilling to accept blood products.

Functional characterization of a novel T

Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes

✍ Valeria Serra; Marco Castori; Mauro Paradisi; Laura Bui; Gerry Melino; Alessandr 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 416 KB 👁 2 views

Syndrome of multiple epiphyseal dysplasi

Syndrome of multiple epiphyseal dysplasia (ribbing type) with rhizomelic shortness, cleft palate, and micrognathia in two unrelated patients

✍ Lowry, R. Brian; Wesenberg, Richard L.; Hall, Judith G. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 43 KB

We report on two unrelated patietns with an apparently new syndrome. In each family they are the only affected members, their parents are not consanguineous, and paternal and maternal ages are not advanced. At birth each patient was noted to have a marked Robin phenotype (cleft of the secondary pal

Variable expression of rib, pectus, and

Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: A new syndrome?

✍ Stalker, Heather J.; Zori, Roberto T. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 2 views

We report on a 5-generation family with multiple musculoskeletal anomalies, including: Robin-type cleft palate, rib ''dysplasia,'' scapular hypoplasia, and pectus excavatum. Robin-type clefts are known to be associated with various skeletal malformations; however, most of these include limb anomalie

Increased occurrence of cleft lip in gly

Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop

✍ Huie, M.L.; Kasper, J.S.; Arn, P.H.; Greenberg, C.R.; Hirschhorn, R. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

## Genetic deficiency of lysosomal acid ␣-glucosidase (acid maltase) results in the autosomal recessive disorder glycogen storage disease type II (GSDII) in which intralysosomal accumulation of glycogen primarily affects function of skeletal and cardiac muscle. During an earlier review we noted 3 i