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Journal Abstract Search
136 related items for PubMed ID: 6638075
1. Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy. Dahlberg PJ, Borer WZ, Newcomer KL, Yutuc WR. Am J Med Genet; 1983 Sep; 16(1):99-104. PubMed ID: 6638075 [Abstract] [Full Text] [Related]
2. Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes. Irons MB, Bianchi DW, Geggel RL, Marx GR, Bhan I. Am J Med Genet; 1996 Dec 02; 66(1):69-71. PubMed ID: 8957515 [Abstract] [Full Text] [Related]
3. [Aarskog's syndrome. Description of a case and endocrinological study]. Saggese G, Bertelloni S, Baroncelli GI, Calisti L. Pediatr Med Chir; 1983 Dec 02; 5(6):613-8. PubMed ID: 6442411 [Abstract] [Full Text] [Related]
4. Microcephaly and digital anomalies: a newly recognized syndrome of recessively inherited mental retardation. Kelly TE, Kirson L, Wyatt J. Am J Med Genet; 1993 Feb 01; 45(3):353-5. PubMed ID: 8434622 [Abstract] [Full Text] [Related]
5. Expansion of the phenotype in Hennekam syndrome: a case with new manifestations. Angle B, Hersh JH. Am J Med Genet; 1997 Aug 08; 71(2):211-4. PubMed ID: 9217224 [Abstract] [Full Text] [Related]
6. Roberts syndrome or "X-linked amelia"? Gershoni-Baruch R, Drugan A, Bronshtein M, Zimmer EZ. Am J Med Genet; 1990 Dec 08; 37(4):569-72. PubMed ID: 2260610 [Abstract] [Full Text] [Related]
7. Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? Ng D, Hadley DW, Tifft CJ, Biesecker LG. Am J Med Genet; 2002 Jul 15; 110(4):308-14. PubMed ID: 12116202 [Abstract] [Full Text] [Related]
8. A new type of maxillofacial dysostosis, inherited as an X-linked or autosomal recessive trait. Ensink RJ, Brunner HG, Cremers CW. Genet Couns; 1997 Jul 15; 8(4):285-90. PubMed ID: 9457496 [Abstract] [Full Text] [Related]
13. Index finger hyperphalangy and multiple anomalies: Catel-Manzke syndrome? Wilson GN, King TE, Brookshire GS. Am J Med Genet; 1993 Apr 15; 46(2):176-9. PubMed ID: 8484405 [Abstract] [Full Text] [Related]
14. Guadalajara camptodactyly syndrome. A distinct probably autosomal recessive disorder. Cantú JM, Rivera H, Nazará Z, Rojas Q, Hernández A, García-Cruz D. Clin Genet; 1980 Sep 15; 18(3):153-9. PubMed ID: 7192193 [Abstract] [Full Text] [Related]
15. Holoprosencephaly and endocrine dysgenesis in brothers. Begleiter ML, Harris DJ. Am J Med Genet; 1980 Sep 15; 7(3):315-8. PubMed ID: 7193414 [Abstract] [Full Text] [Related]
16. A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism. Akalin I, Senses DA, Ilgin-Ruhi H, Misirlioğlu E, Yalçiner M, Cetinkaya E, Fryns JP, Tükün A. Genet Couns; 2005 Sep 15; 16(2):145-8. PubMed ID: 16080293 [Abstract] [Full Text] [Related]
18. The neurofaciodigitorenal (NFDR) syndrome. Freire-Maia N, Pinheiro M, Opitz JM. Am J Med Genet; 1982 Mar 15; 11(3):329-36. PubMed ID: 7081297 [Abstract] [Full Text] [Related]
19. VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance. Wang H, Hunter AG, Clifford B, McLaughlin M, Thompson D. Am J Med Genet; 1993 Aug 01; 47(1):114-7. PubMed ID: 8368240 [Abstract] [Full Text] [Related]