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Items: 12

1.

Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome.

Burke BA, Wick MR, King R, Thompson T, Hansen J, Darrae BT, Francke U, Seltzer WK, McCabe ER, Scheithauer BW.

Am J Med Genet. 1988 Sep;31(1):75-97. Review.

PMID:
2906226
2.

Molecular basis of familial growth hormone deficiency.

Pérez Jurado LA, Argente J.

Horm Res. 1994;42(4-5):189-97. Review.

PMID:
7868072
3.

Genetics of human hypogonadotropic hypogonadism.

Layman LC.

Am J Med Genet. 1999 Dec 29;89(4):240-8. Review.

PMID:
10727999
4.

De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland.

Chen H, Hoffman WH, Kusyk CJ, Tuck-Muller CM, Hoffman MG, Davis LS.

Am J Med Genet. 1995 Feb 13;55(4):489-93. Review.

PMID:
7762592
5.

Isolated and contiguous glycerol kinase gene disorders: a review.

Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT.

J Inherit Metab Dis. 2000 Sep;23(6):529-47. Review.

PMID:
11032329
6.

Congenital vocal cord paralysis with possible autosomal recessive inheritance: case report and review of the literature.

Koppel R, Friedman S, Fallet S.

Am J Med Genet. 1996 Aug 23;64(3):485-7. Review.

PMID:
8862626
7.

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

Heide S, Afenjar A, Edery P, Sanlaville D, Keren B, Rouen A, Lavillaureix A, Hyon C, Doummar D, Siffroi JP, Chantot-Bastaraud S.

Eur J Med Genet. 2015 Jun-Jul;58(6-7):341-5. doi: 10.1016/j.ejmg.2015.04.003. Epub 2015 Apr 23. Review.

PMID:
25917374
9.

IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature.

Phillips K, Arroyo MR, Duckworth LV.

Pediatr Dev Pathol. 2014 May-Jun;17(3):204-8. doi: 10.2350/14-01-1421-OA.1. Epub 2014 Mar 11. Review.

PMID:
24617583
10.

Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance.

Bergadá I, Del Rey G, Lapunzina P, Bergadá C, Fellous M, Copelli S.

J Clin Endocrinol Metab. 2005 Jun;90(6):3186-90. Epub 2005 Mar 15. Review.

PMID:
15769992
11.

Inherited adrenal hypoplasia: not just for kids!

Lin L, Achermann JC.

Clin Endocrinol (Oxf). 2004 May;60(5):529-37. Review. No abstract available.

PMID:
15104553
12.

XK-aprosencephaly and related entities.

Renzetti G, Villani A, Bizzarri C, Chessa L, Vignati E, Gianotti A, Cappa M, Szakacs J, Townsend JJ, Miller ME, Opitz JM, Kennedy AM, Byrne JL.

Am J Med Genet A. 2005 Nov 1;138(4):401-10. Review.

PMID:
16208689

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