179 related articles for article (PubMed ID: 2248288)
21. GAPO syndrome: report on the first case in Japan.
Moriya N; Mitsui T; Shibata T; Yamaguchi K; Kanazawa C; Matsunaga A; Hayasaka K
Am J Med Genet; 1995 Sep; 58(3):257-61. PubMed ID: 8533828
[TBL] [Abstract][Full Text] [Related]
22. The Peters'-Plus syndrome: description of 16 patients and review of the literature.
Hennekam RC; Van Schooneveld MJ; Ardinger HH; Van Den Boogaard MJ; Friedburg D; Rudnik-Schoneborn S; Seguin JH; Weatherstone KB; Wittebol-Post D; Meinecke P
Clin Dysmorphol; 1993 Oct; 2(4):283-300. PubMed ID: 7508316
[TBL] [Abstract][Full Text] [Related]
23. GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
Abdel-Hamid MS; Ismail S; Zaki MS; Abdel-Salam GMH; Otaify GA; Issa MY; Abdel-Kader M; Girgis M; Aboul-Ezz E; Mazen I; Aglan MS; Temtamy SA
Am J Med Genet A; 2019 Feb; 179(2):237-242. PubMed ID: 30575274
[TBL] [Abstract][Full Text] [Related]
24. Three new cases of Tel Hashomer camptodactyly syndrome in one Arabic family.
Tylki-Szymanska A
Am J Med Genet; 1986 Mar; 23(3):759-63. PubMed ID: 3953674
[TBL] [Abstract][Full Text] [Related]
25. [Dyggve-Melchior-Clausen syndrome].
Beemer FA; Hennekam RC
Tijdschr Kindergeneeskd; 1984 Jun; 52(3):103-7. PubMed ID: 6506057
[TBL] [Abstract][Full Text] [Related]
26. [Familial pelvi-scapulary dysplasia with anomalies of the epiphyses, dwarfism and dysmorphy: a new syndrome? (author's transl)].
Cousin J; Walbaum R; Cegarra P; Huguet J; Louis J; Pauli A; Fournier A; Fontaine G
Arch Fr Pediatr; 1982 Mar; 39(3):173-5. PubMed ID: 7103674
[TBL] [Abstract][Full Text] [Related]
27. A novel mutation at ANTXR1 in an Indian patient with growth retardation-alopecia-pseudoanodontia-optic atrophy syndrome.
Chattopadhyay E; Ghose S; Ray A; Anjum N; Mazumdar A; Roy B
Oral Surg Oral Med Oral Pathol Oral Radiol; 2017 Nov; 124(5):e261-e265. PubMed ID: 28870703
[TBL] [Abstract][Full Text] [Related]
28. Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance.
Koiffmann CP; Wajntal A; Huyke BJ; Castro RM
Am J Med Genet; 1988 Feb; 29(2):263-8. PubMed ID: 3354597
[TBL] [Abstract][Full Text] [Related]
29. A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency.
Hurst JA; Baraitser M; Winter RM
Am J Med Genet; 1987 Dec; 28(4):965-70. PubMed ID: 3688035
[TBL] [Abstract][Full Text] [Related]
30. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies.
Malpuech G; Demeocq F; Palcoux JB; Vanlieferinghen P
Am J Med Genet; 1983 Dec; 16(4):475-80. PubMed ID: 6660246
[TBL] [Abstract][Full Text] [Related]
31. Fallot complex, severe mental, and growth retardation: a new autosomal recessive syndrome?
Bindewald B; Ulmer H; Müller U
Am J Med Genet; 1994 Apr; 50(2):173-6. PubMed ID: 8010348
[TBL] [Abstract][Full Text] [Related]
32. Mulibrey nanism: three additional patients and a review of 39 patients.
Lapunzina P; Rodríguez JI; de Matteo E; Gracia R; Moreno F
Am J Med Genet; 1995 Jan; 55(3):349-55. PubMed ID: 7726235
[TBL] [Abstract][Full Text] [Related]
33. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Bayram Y; Pehlivan D; Karaca E; Gambin T; Jhangiani SN; Erdin S; Gonzaga-Jauregui C; Wiszniewski W; Muzny D; ; Elcioglu NH; Yildirim MS; Bozkurt B; Zamani AG; Boerwinkle E; Gibbs RA; Lupski JR
Am J Med Genet A; 2014 Sep; 164A(9):2328-34. PubMed ID: 25045128
[TBL] [Abstract][Full Text] [Related]
34. GAPO Syndrome-A Rare Cause of Osteomyelitis of Jaws; Report of 4 Cases With a Brief Review of the Literature.
Puranik RS; Puranik SR; Hallur N; Venkatesh D
J Oral Maxillofac Surg; 2018 Jun; 76(6):1216-1225. PubMed ID: 29304326
[TBL] [Abstract][Full Text] [Related]
35. Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findings.
Falcone MM; Chang YH; Lidov H; Stagner AM; Dagi LR
Ophthalmic Genet; 2023 Dec; 44(6):598-601. PubMed ID: 36748830
[TBL] [Abstract][Full Text] [Related]
36. Ruvalcaba syndrome: autosomal dominant inheritance.
Sugio Y; Kajii T
Am J Med Genet; 1984 Dec; 19(4):741-53. PubMed ID: 6517098
[TBL] [Abstract][Full Text] [Related]
37. A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism.
Johnson VP; McMillin JM; Aceto T; Bruins G
Am J Med Genet; 1983 Jul; 15(3):497-506. PubMed ID: 6881216
[TBL] [Abstract][Full Text] [Related]
38. Apparently new syndrome of short stature, lumbar malsegmentation, and minor facial anomalies in two brothers.
Leipälä JA; Kaitila I
Am J Med Genet; 1994 Aug; 52(1):103-7. PubMed ID: 7977451
[TBL] [Abstract][Full Text] [Related]
39. A familial syndrome of short stature associated with facial dysplasia and genital anomalies.
Aarskog D
Birth Defects Orig Artic Ser; 1971 May; 7(6):235-9. PubMed ID: 4155960
[TBL] [Abstract][Full Text] [Related]
40. Telogen hair loss and androgenetic-like alopecia in GAPO syndrome.
Ahmed B; Gritli S
Australas J Dermatol; 2019 May; 60(2):e142-e144. PubMed ID: 30255493
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]